--- type: "firecrawl-provider" description: "ClinVar, NCBI's public archive of human genetic variants and their clinical classifications (4.7 million records), through NCBI E-utilities. Search variants by gene, HGVS name, rsID, canonical SPDI, condition or free text, filtered by germline classification, review status or star rating, variant type and molecular consequence; read one variant by VCV accession, variation ID, ClinVar URL, rsID or HGVS with its aggregate germline classification, somatic clinical impact and oncogenicity, review status and stars, conditions with MedGen, OMIM, MONDO, Orphanet and HPO IDs, per-condition RCV aggregates, and each submitter's classification with criteria, allele origin, method and cited PMIDs. Every output carries ClinVar's citation and its clinical-use disclaimer." use_when: "ClinVar, NCBI's public archive of human genetic variants and their clinical classifications (4.7 million records), through NCBI E-utilities. Search variants by gene, HGVS name, rsID, canonical SPDI, condition or free text, filtered by germline classification, review status or star rating, variant type and molecular consequence; read one variant by VCV accession, variation ID, ClinVar URL, rsID or HGVS with its aggregate germline classification, somatic clinical impact and oncogenicity, review status and stars, conditions with MedGen, OMIM, MONDO, Orphanet and HPO IDs, per-condition RCV aggregates, and each submitter's classification with criteria, allele origin, method and cited PMIDs. Every output carries ClinVar's citation and its clinical-use disclaimer." categories: "Life sciences" capabilities: 2 credits_per_call: 5 --- # ClinVar on Firecrawl Alexandria ClinVar, NCBI's public archive of human genetic variants and their clinical classifications (4.7 million records), through NCBI E-utilities. Search variants by gene, HGVS name, rsID, canonical SPDI, condition or free text, filtered by germline classification, review status or star rating, variant type and molecular consequence; read one variant by VCV accession, variation ID, ClinVar URL, rsID or HGVS with its aggregate germline classification, somatic clinical impact and oncogenicity, review status and stars, conditions with MedGen, OMIM, MONDO, Orphanet and HPO IDs, per-condition RCV aggregates, and each submitter's classification with criteria, allele origin, method and cited PMIDs. Every output carries ClinVar's citation and its clinical-use disclaimer. - Categories: Life sciences - Category index: [Life sciences category](https://firecrawl.dev/alexandria/agents/categories/life-sciences) - Provider key: `clinvar-ncbi-nlm-nih-gov` - Access: Firecrawl credits - Cost: 5 credits per call ## More - [Human guide](https://firecrawl.dev/app/alexandria/clinvar-ncbi-nlm-nih-gov) - [OpenAPI spec](https://firecrawl.dev/alexandria/agents/providers/clinvar-ncbi-nlm-nih-gov/openapi.json) ## Capabilities - [Get](https://firecrawl.dev/alexandria/agents/providers/clinvar-ncbi-nlm-nih-gov/variants/get): One ClinVar variant by VCV accession (`VCV000017661`, with or without `.version`), variation ID (`17661`), ClinVar variation URL, rsID, HGVS name (`NM_007294.4:c.181T>G`, `BRCA1 c.181T>G`), canonical SPDI, RCV accession or ClinGen allele ID. Returns the variant as in `search` with HGNC IDs added; the record's version, dates, submission and submitter counts, how the germline aggregate was reached, and the records it replaced or was merged into; the per-condition RCV aggregates (up to 50, with `rcv_total`); and submissions (SCVs), highest review status and newest evaluation first, up to `submissions_limit`, each with submitter, classification type (germline, somatic clinical impact with its type and significance, or oncogenicity), review status, stars, evaluation and submission dates, conditions with MedGen mapping, allele origins, collection methods, assertion criteria, whether it counts toward the aggregate, and up to 20 cited PMIDs. `resolution` says how the input matched. An rsID or HGVS name that matches several variations (different alleles or transcripts) is `invalid_input` listing the candidates; an unknown, deleted or merged ID is `not_found`. - [Search](https://firecrawl.dev/alexandria/agents/providers/clinvar-ncbi-nlm-nih-gov/variants/search): Search ClinVar variants. `query` takes a gene-and-change (`BRCA1 c.181T>G`), an HGVS name (`NM_007294.4(BRCA1):c.181T>G`, `NC_000017.11:g.43106487A>C`), an rsID, a canonical SPDI, a VCV or RCV accession, a ClinGen allele ID or free text in Entrez syntax with ClinVar fields (`[gene]`, `[dis]`, `[vrnm]`); filters narrow by gene symbol, condition (name or MedGen, OMIM, MONDO, Orphanet or HPO ID), germline classification, review status or minimum stars, variant type and molecular consequence, and can be used without `query`. Each result is one variation (VCV) with name, type, coding and protein changes, genes, the aggregate germline classification with review status, stars, last evaluation and conditions, somatic clinical impact and oncogenicity, consequences, GRCh38 and GRCh37 location, rsIDs, canonical SPDI and cross-references. ClinVar orders results newest record first (it has no relevance sort); `total` counts every match and `next_offset` pages. A gene, condition or HGVS name ClinVar does not know gives an empty page with a message, never a broader search. ## 1. Choose this provider when ClinVar, NCBI's public archive of human genetic variants and their clinical classifications (4.7 million records), through NCBI E-utilities. Search variants by gene, HGVS name, rsID, canonical SPDI, condition or free text, filtered by germline classification, review status or star rating, variant type and molecular consequence; read one variant by VCV accession, variation ID, ClinVar URL, rsID or HGVS with its aggregate germline classification, somatic clinical impact and oncogenicity, review status and stars, conditions with MedGen, OMIM, MONDO, Orphanet and HPO IDs, per-condition RCV aggregates, and each submitter's classification with criteria, allele origin, method and cited PMIDs. Every output carries ClinVar's citation and its clinical-use disclaimer. ## 2. Minimal request Call `POST https://api.firecrawl.dev/v2/scrape` with `{ alexandria: { provider, capability, options } }`. For a batch, send `{ alexandria: [...] }` with up to 10 calls. ```json { "provider": "clinvar-ncbi-nlm-nih-gov", "capability": "variants/get", "options": { "variant": "VCV000017661" } } ``` ## 3. Add provider options Use only the options needed for the task: - `submissions_limit` (number): Submissions to list; `submissions_total` counts all. Example: `25` - `variant` (string, required): `VCV000017661`, `VCV000017661.165`, `17661`, `https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/`, `rs28897672` (when it names one variation), `NM_007294.4(BRCA1):c.181T>G`, `BRCA1 c.181T>G`, `NC_000017.11:43106486:A:C`, `RCV000019229` or `CA001182`. Example: `VCV000017661` ## 4. Request through your preferred interface ### JavaScript ```javascript const result = await firecrawl.scrape({ alexandria: { provider: "clinvar-ncbi-nlm-nih-gov", capability: "variants/get", options: { variant: "VCV000017661", }, }, }); ``` ### Python ```python result = firecrawl.scrape_alexandria({ "provider": "clinvar-ncbi-nlm-nih-gov", "capability": "variants/get", "options": { "variant": "VCV000017661" } }) ``` ### cURL ```sh curl https://api.firecrawl.dev/v2/scrape \ -H "Authorization: Bearer $FIRECRAWL_API_KEY" \ -H "Content-Type: application/json" \ -d '{ "alexandria": { "provider": "clinvar-ncbi-nlm-nih-gov", "capability": "variants/get", "options": { "variant": "VCV000017661" } } }' ``` ### CLI ```sh firecrawl scrape 'clinvar-ncbi-nlm-nih-gov/variants/get' \ --options '{"variant":"VCV000017661"}' ``` ### MCP Call the FCX MCP retrieve tool with this object: ```json { "provider": "clinvar-ncbi-nlm-nih-gov", "capability": "variants/get", "options": { "variant": "VCV000017661" } } ``` Ask for only the returned fields needed by the task. ## 5. Full request shape ```json { "provider": "clinvar-ncbi-nlm-nih-gov", "capability": "variants/get", "options": { "variant": "VCV000017661" } } ``` ## 6. Response data The response includes `success`, `provider`, `capability`, `creditsCost` and `data`. This example shows the provider payload in `data`: ```json { "license": { "attribution": "Data from ClinVar, National Center for Biotechnology Information, U.S. National Library of Medicine (https://www.ncbi.nlm.nih.gov/clinvar/). Cite ClinVar, e.g. Landrum MJ et al., Nucleic Acids Res. 2018;46(D1):D1062-D1067 (PMID: 29165669).", "disclaimer": "ClinVar's information is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. NIH does not independently verify the submitted information.", "name": "Public domain (NCBI)", "rights": "NCBI places no restrictions on the use or distribution of its molecular data; some submitters may claim rights in the data they submitted.", "terms_url": "https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "observed_at_ms": 1793396497661, "rcv_total": 14, "rcvs": [ { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2015-08-10", "review_status": "reviewed by expert panel", "stars": 3, "submission_count": 27 }, "oncogenicity": null, "rcv_accession": "RCV000019229", "version": 63 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-02-03", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 10 }, "oncogenicity": null, "rcv_accession": "RCV000047597", "version": 44 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-03-11", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 4 }, "oncogenicity": null, "rcv_accession": "RCV000131902", "version": 25 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-03-01", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 19 }, "oncogenicity": null, "rcv_accession": "RCV000159935", "version": 88 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0346153" ], "name": "Familial cancer of breast" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-11-24", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 4 }, "oncogenicity": null, "rcv_accession": "RCV000239114", "version": 16 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C1458155" ], "name": "Breast neoplasm" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": null, "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV000412714", "version": 10 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0678222" ], "name": "Breast carcinoma" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2022-10-24", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV000415051", "version": 11 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0919267" ], "name": "Ovarian neoplasm" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2018-12-01", "review_status": "no assertion criteria provided", "stars": 0, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV000785199", "version": 10 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:CN221562" ], "name": "Breast and/or ovarian cancer" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2019-06-11", "review_status": "no assertion criteria provided", "stars": 0, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV001270967", "version": 9 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:CN377757" ], "name": "BRCA1-related cancer predisposition" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2024-07-29", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV004802937", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" }, { "ids": [ "MedGen:C4554406" ], "name": "Fanconi anemia, complementation group S" }, { "ids": [ "MedGen:C3280442" ], "name": "Pancreatic cancer, susceptibility to, 4" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2024-04-22", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV005003390", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "Inherited ovarian cancer (without breast cancer)" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-09-25", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV005646760", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-08-05", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV006748266", "version": 2 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "BRCA1-related disorder" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-06-17", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV006879033", "version": 2 } ], "record": { "date_created": "2015-09-29", "date_last_updated": "2026-10-18", "germline_explanation": "Pathogenic (1)", "most_recent_submission": "2026-10-10", "record_status": "current", "record_type": "classified", "replaced_by": null, "replaces": [], "submission_count": 77, "submitter_count": 71, "version": 165 }, "resolution": { "input": "VCV000017661", "matched_on": "vcv_accession", "note": null, "requested_version": null }, "submissions": [ { "assertion_method": "ENIGMA BRCA1/2 Classification Criteria (2015)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial 1" } ], "contributes_to_aggregate": true, "last_evaluated": "2015-08-10", "methods": [ "curation" ], "origins": [ "germline" ], "pmids": [ "21990134" ], "record_status": "current", "review_status": "reviewed by expert panel", "scv_accession": "SCV000244308", "scv_version": 1, "stars": 3, "submitted": "2015-08-17", "submitter": "Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)", "submitter_org_id": "504863" }, { "assertion_method": "CanVIG BRCA Gene Specific V1.22", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-08-05", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV008086739", "scv_version": 1, "stars": 1, "submitted": "2026-10-04", "submitter": "Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub", "submitter_org_id": "509173" }, { "assertion_method": "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-07-06", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007664727", "scv_version": 1, "stars": 1, "submitted": "2026-08-11", "submitter": "Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service", "submitter_org_id": "288359" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-06-29", "methods": [ "clinical testing" ], "origins": [ "unknown" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV001251421", "scv_version": 12, "stars": 1, "submitted": "2026-07-17", "submitter": "Institute of Human Genetics, University of Leipzig Medical Center", "submitter_org_id": "506086" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "BRCA1-related condition" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-06-17", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV008017038", "scv_version": 1, "stars": 1, "submitted": "2026-09-29", "submitter": "PreventionGenetics, part of Exact Sciences", "submitter_org_id": "239772" }, { "assertion_method": "CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:CN517202", "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-03-01", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV001249217", "scv_version": 39, "stars": 1, "submitted": "2026-07-04", "submitter": "CeGaT Center for Human Genetics Tuebingen", "submitter_org_id": "505870" }, { "assertion_method": "Invitae Variant Classification Sherloc (09022015)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-02-03", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "10788334", "20180014", "21324516", "19594371", "20345474", "20507347", "20569256", "30209399", "9525870", "11278247", "22172724", "22843421", "23161852", "23867111" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000075610", "scv_version": 19, "stars": 1, "submitted": "2026-02-06", "submitter": "Labcorp Genetics (formerly Invitae), Labcorp", "submitter_org_id": "500031" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-12-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "20180014", "29339979", "23199084", "9525870", "30209399" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002551068", "scv_version": 8, "stars": 1, "submitted": "2025-12-30", "submitter": "Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital", "submitter_org_id": "505691" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:114480", "MedGen:C0346153" ], "name": "Familial cancer of breast" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-11-24", "methods": [ "clinical testing" ], "origins": [ "maternal" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002765087", "scv_version": 2, "stars": 1, "submitted": "2025-12-05", "submitter": "Institute of Human Genetics, University of Leipzig Medical Center", "submitter_org_id": "506086" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited ovarian cancer (without breast cancer)" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-09-25", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006336692", "scv_version": 1, "stars": 1, "submitted": "2025-09-25", "submitter": "NHS Central & South Genomic Laboratory Hub", "submitter_org_id": "509539" }, { "assertion_method": "Hauer et al. (Genet Med. 2018)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:CN517202", "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-08-04", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006303525", "scv_version": 1, "stars": 1, "submitted": "2025-08-04", "submitter": "Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg", "submitter_org_id": "505150" }, { "assertion_method": "DASA Assertion Criteria", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-07-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "32741062", "30209399", "9525870", "11278247", "22172724", "23161852", "7894493" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007599474", "scv_version": 1, "stars": 1, "submitted": "2026-05-15", "submitter": "Dasa", "submitter_org_id": "508087" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-07-25", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007540194", "scv_version": 1, "stars": 1, "submitted": "2026-03-25", "submitter": "Helix", "submitter_org_id": "510263" }, { "assertion_method": "Ambry Variant Classification Scheme 2023", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-03-11", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "16227521", "21990165", "23199084", "25782689", "27153395", "27433846", "28324225", "28423363", "28477318", "29433453", "30067863", "30209399" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000186957", "scv_version": 9, "stars": 1, "submitted": "2025-04-14", "submitter": "Ambry Genetics", "submitter_org_id": "61756" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-03-10", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "9525870", "10447273", "10788334", "11102977", "11278247", "11320250", "18243530", "19594371", "20103620", "20345474", "20507347", "20569256", "23867111", "25823446", "29492181", "30209399", "31853058", "32341426", "32546644", "32885271" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000292141", "scv_version": 6, "stars": 1, "submitted": "2025-04-29", "submitter": "Color Diagnostics, LLC DBA Color Health", "submitter_org_id": "505849" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-02-16", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006109959", "scv_version": 1, "stars": 1, "submitted": "2025-06-13", "submitter": "Laboratory of Genetics, Children's Clinical University Hospital Latvia", "submitter_org_id": "509237" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "BRCA1-related disorders" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-23", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007843480", "scv_version": 1, "stars": 1, "submitted": "2026-08-20", "submitter": "Blueprint Genetics", "submitter_org_id": "500188" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-22", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002024711", "scv_version": 4, "stars": 1, "submitted": "2025-08-19", "submitter": "Revvity Omics, Revvity", "submitter_org_id": "167595" }, { "assertion_method": "ClinGen BRCA1 V1.1.0", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-11", "methods": [ "curation" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV005848150", "scv_version": 1, "stars": 1, "submitted": "2025-02-17", "submitter": "German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne", "submitter_org_id": "506864" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Likely pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-09-28", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "19329713" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006582311", "scv_version": 1, "stars": 1, "submitted": "2025-10-10", "submitter": "3billion", "submitter_org_id": "507830" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MONDO:0700268", "MedGen:CN377757" ], "name": "BRCA1-related cancer predisposition" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-07-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "9525870", "10447273", "10788334", "11102977", "11278247", "11320250", "19594371", "20180014", "20345474", "20507347", "20569256", "21324516", "21503673", "21965345", "23695190", "24728189", "27433846", "29492181" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV004823691", "scv_version": 2, "stars": 1, "submitted": "2024-12-12", "submitter": "All of Us Research Program, National Institutes of Health", "submitter_org_id": "509529" }, { "assertion_method": "Assertion Criteria Germline", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MONDO:0003582", "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-06-27", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "26381082", "20103620" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007097383", "scv_version": 1, "stars": 1, "submitted": "2025-09-01", "submitter": "Department of Genomics, ADN Uruguay", "submitter_org_id": "510148" }, { "assertion_method": "ARUP Molecular Germline Variant Investigation Process 2024", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-06-09", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000602706", "scv_version": 5, "stars": 1, "submitted": "2025-01-28", "submitter": "ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories", "submitter_org_id": "25969" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-05-27", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV005045920", "scv_version": 1, "stars": 1, "submitted": "2024-05-27", "submitter": "Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet", "submitter_org_id": "1147" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "Not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-04-30", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "10447273", "10788334", "11102977", "14986830", "15290653", "16168118", "18824701", "19770520", "21324516", "21990134", "24504028", "24728189", "27433846", "30209399", "31347298", "32546644", "7894493", "8644702" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000778779", "scv_version": 2, "stars": 1, "submitted": "2024-12-17", "submitter": "Mayo Clinic Laboratories, Mayo Clinic", "submitter_org_id": "500068" } ], "submissions_total": 77, "variant": { "canonical_spdi": "NC_000017.11:43106486:A:C", "cdna_change": "c.181T>G", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": "HGNC:1100", "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2015-08-10", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41258504, "stop": 41258504 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43106487, "stop": 43106487 } }, "molecular_consequences": [ "missense variant", "non-coding transcript variant" ], "name": "NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)", "oncogenicity": null, "protein_changes": [ "C61G", "C14G" ], "record_status": "current", "rsids": [ "rs28897672" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/", "submission_count": 77, "variant_type": "single nucleotide variant", "variation_id": "17661", "vcv_accession": "VCV000017661", "version": 165, "xrefs": [ "BRCA1-HCI:BRCA1_00099", "ClinGen:CA001182", "UniProtKB:P38398#VAR_007757", "OMIM:113705.0002" ] } } ``` ## API reference-derived contract The following capability contract is generated from the same normalized Alexandria API reference exposed in the API spec. ### Get - Capability: `variants/get` - Description: One ClinVar variant by VCV accession (`VCV000017661`, with or without `.version`), variation ID (`17661`), ClinVar variation URL, rsID, HGVS name (`NM_007294.4:c.181T>G`, `BRCA1 c.181T>G`), canonical SPDI, RCV accession or ClinGen allele ID. Returns the variant as in `search` with HGNC IDs added; the record's version, dates, submission and submitter counts, how the germline aggregate was reached, and the records it replaced or was merged into; the per-condition RCV aggregates (up to 50, with `rcv_total`); and submissions (SCVs), highest review status and newest evaluation first, up to `submissions_limit`, each with submitter, classification type (germline, somatic clinical impact with its type and significance, or oncogenicity), review status, stars, evaluation and submission dates, conditions with MedGen mapping, allele origins, collection methods, assertion criteria, whether it counts toward the aggregate, and up to 20 cited PMIDs. `resolution` says how the input matched. An rsID or HGVS name that matches several variations (different alleles or transcripts) is `invalid_input` listing the candidates; an unknown, deleted or merged ID is `not_found`. - Instructions: When you have one variant (accession, ClinVar URL, rsID or HGVS) and need its clinical classification with the evidence behind it: who submitted what, with which criteria and citations, and whether an expert panel reviewed it. Use `search` to list variants by gene, condition or classification. Use snp-ncbi-nlm-nih-gov for dbSNP allele frequencies, alphafold-ebi-ac-uk `missense` for predicted (not clinical) missense effects, gene-ncbi-nlm-nih-gov for the gene, and orphadata-com for the rare disease itself. - Cost: 5 credits per call - Capability file: [Get](https://firecrawl.dev/alexandria/agents/providers/clinvar-ncbi-nlm-nih-gov/variants/get) Accepted options: - `submissions_limit` (number): Submissions to list; `submissions_total` counts all. Example: `25` - `variant` (string, required): `VCV000017661`, `VCV000017661.165`, `17661`, `https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/`, `rs28897672` (when it names one variation), `NM_007294.4(BRCA1):c.181T>G`, `BRCA1 c.181T>G`, `NC_000017.11:43106486:A:C`, `RCV000019229` or `CA001182`. Example: `VCV000017661` Response schema example: ```json { "license": { "attribution": "Data from ClinVar, National Center for Biotechnology Information, U.S. National Library of Medicine (https://www.ncbi.nlm.nih.gov/clinvar/). Cite ClinVar, e.g. Landrum MJ et al., Nucleic Acids Res. 2018;46(D1):D1062-D1067 (PMID: 29165669).", "disclaimer": "ClinVar's information is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. NIH does not independently verify the submitted information.", "name": "Public domain (NCBI)", "rights": "NCBI places no restrictions on the use or distribution of its molecular data; some submitters may claim rights in the data they submitted.", "terms_url": "https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "observed_at_ms": 1793396497661, "rcv_total": 14, "rcvs": [ { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2015-08-10", "review_status": "reviewed by expert panel", "stars": 3, "submission_count": 27 }, "oncogenicity": null, "rcv_accession": "RCV000019229", "version": 63 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-02-03", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 10 }, "oncogenicity": null, "rcv_accession": "RCV000047597", "version": 44 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-03-11", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 4 }, "oncogenicity": null, "rcv_accession": "RCV000131902", "version": 25 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-03-01", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 19 }, "oncogenicity": null, "rcv_accession": "RCV000159935", "version": 88 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0346153" ], "name": "Familial cancer of breast" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-11-24", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 4 }, "oncogenicity": null, "rcv_accession": "RCV000239114", "version": 16 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C1458155" ], "name": "Breast neoplasm" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": null, "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV000412714", "version": 10 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0678222" ], "name": "Breast carcinoma" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2022-10-24", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV000415051", "version": 11 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C0919267" ], "name": "Ovarian neoplasm" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2018-12-01", "review_status": "no assertion criteria provided", "stars": 0, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV000785199", "version": 10 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:CN221562" ], "name": "Breast and/or ovarian cancer" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2019-06-11", "review_status": "no assertion criteria provided", "stars": 0, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV001270967", "version": 9 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:CN377757" ], "name": "BRCA1-related cancer predisposition" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2024-07-29", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV004802937", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" }, { "ids": [ "MedGen:C4554406" ], "name": "Fanconi anemia, complementation group S" }, { "ids": [ "MedGen:C3280442" ], "name": "Pancreatic cancer, susceptibility to, 4" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2024-04-22", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV005003390", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "Inherited ovarian cancer (without breast cancer)" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2025-09-25", "review_status": "criteria provided, single submitter", "stars": 1, "submission_count": 1 }, "oncogenicity": null, "rcv_accession": "RCV005646760", "version": 1 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-08-05", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV006748266", "version": 2 }, { "clinical_impact": null, "conditions": [ { "ids": [], "name": "BRCA1-related disorder" } ], "germline_classification": { "classification": "Pathogenic", "last_evaluated": "2026-06-17", "review_status": "criteria provided, multiple submitters, no conflicts", "stars": 2, "submission_count": 2 }, "oncogenicity": null, "rcv_accession": "RCV006879033", "version": 2 } ], "record": { "date_created": "2015-09-29", "date_last_updated": "2026-10-18", "germline_explanation": "Pathogenic (1)", "most_recent_submission": "2026-10-10", "record_status": "current", "record_type": "classified", "replaced_by": null, "replaces": [], "submission_count": 77, "submitter_count": 71, "version": 165 }, "resolution": { "input": "VCV000017661", "matched_on": "vcv_accession", "note": null, "requested_version": null }, "submissions": [ { "assertion_method": "ENIGMA BRCA1/2 Classification Criteria (2015)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial 1" } ], "contributes_to_aggregate": true, "last_evaluated": "2015-08-10", "methods": [ "curation" ], "origins": [ "germline" ], "pmids": [ "21990134" ], "record_status": "current", "review_status": "reviewed by expert panel", "scv_accession": "SCV000244308", "scv_version": 1, "stars": 3, "submitted": "2015-08-17", "submitter": "Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)", "submitter_org_id": "504863" }, { "assertion_method": "CanVIG BRCA Gene Specific V1.22", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-08-05", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV008086739", "scv_version": 1, "stars": 1, "submitted": "2026-10-04", "submitter": "Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub", "submitter_org_id": "509173" }, { "assertion_method": "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited breast cancer and ovarian cancer" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-07-06", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007664727", "scv_version": 1, "stars": 1, "submitted": "2026-08-11", "submitter": "Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service", "submitter_org_id": "288359" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-06-29", "methods": [ "clinical testing" ], "origins": [ "unknown" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV001251421", "scv_version": 12, "stars": 1, "submitted": "2026-07-17", "submitter": "Institute of Human Genetics, University of Leipzig Medical Center", "submitter_org_id": "506086" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "BRCA1-related condition" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-06-17", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV008017038", "scv_version": 1, "stars": 1, "submitted": "2026-09-29", "submitter": "PreventionGenetics, part of Exact Sciences", "submitter_org_id": "239772" }, { "assertion_method": "CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:CN517202", "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-03-01", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV001249217", "scv_version": 39, "stars": 1, "submitted": "2026-07-04", "submitter": "CeGaT Center for Human Genetics Tuebingen", "submitter_org_id": "505870" }, { "assertion_method": "Invitae Variant Classification Sherloc (09022015)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2026-02-03", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "10788334", "20180014", "21324516", "19594371", "20345474", "20507347", "20569256", "30209399", "9525870", "11278247", "22172724", "22843421", "23161852", "23867111" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000075610", "scv_version": 19, "stars": 1, "submitted": "2026-02-06", "submitter": "Labcorp Genetics (formerly Invitae), Labcorp", "submitter_org_id": "500031" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-12-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "20180014", "29339979", "23199084", "9525870", "30209399" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002551068", "scv_version": 8, "stars": 1, "submitted": "2025-12-30", "submitter": "Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital", "submitter_org_id": "505691" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:114480", "MedGen:C0346153" ], "name": "Familial cancer of breast" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-11-24", "methods": [ "clinical testing" ], "origins": [ "maternal" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002765087", "scv_version": 2, "stars": 1, "submitted": "2025-12-05", "submitter": "Institute of Human Genetics, University of Leipzig Medical Center", "submitter_org_id": "506086" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "Inherited ovarian cancer (without breast cancer)" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-09-25", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006336692", "scv_version": 1, "stars": 1, "submitted": "2025-09-25", "submitter": "NHS Central & South Genomic Laboratory Hub", "submitter_org_id": "509539" }, { "assertion_method": "Hauer et al. (Genet Med. 2018)", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:CN517202", "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-08-04", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006303525", "scv_version": 1, "stars": 1, "submitted": "2025-08-04", "submitter": "Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg", "submitter_org_id": "505150" }, { "assertion_method": "DASA Assertion Criteria", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-07-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "32741062", "30209399", "9525870", "11278247", "22172724", "23161852", "7894493" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007599474", "scv_version": 1, "stars": 1, "submitted": "2026-05-15", "submitter": "Dasa", "submitter_org_id": "508087" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-07-25", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007540194", "scv_version": 1, "stars": 1, "submitted": "2026-03-25", "submitter": "Helix", "submitter_org_id": "510263" }, { "assertion_method": "Ambry Variant Classification Scheme 2023", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-03-11", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "16227521", "21990165", "23199084", "25782689", "27153395", "27433846", "28324225", "28423363", "28477318", "29433453", "30067863", "30209399" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000186957", "scv_version": 9, "stars": 1, "submitted": "2025-04-14", "submitter": "Ambry Genetics", "submitter_org_id": "61756" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C0027672" ], "name": "Hereditary cancer-predisposing syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-03-10", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "9525870", "10447273", "10788334", "11102977", "11278247", "11320250", "18243530", "19594371", "20103620", "20345474", "20507347", "20569256", "23867111", "25823446", "29492181", "30209399", "31853058", "32341426", "32546644", "32885271" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000292141", "scv_version": 6, "stars": 1, "submitted": "2025-04-29", "submitter": "Color Diagnostics, LLC DBA Color Health", "submitter_org_id": "505849" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2025-02-16", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006109959", "scv_version": 1, "stars": 1, "submitted": "2025-06-13", "submitter": "Laboratory of Genetics, Children's Clinical University Hospital Latvia", "submitter_org_id": "509237" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [], "name": "BRCA1-related disorders" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-23", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007843480", "scv_version": 1, "stars": 1, "submitted": "2026-08-20", "submitter": "Blueprint Genetics", "submitter_org_id": "500188" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-22", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV002024711", "scv_version": 4, "stars": 1, "submitted": "2025-08-19", "submitter": "Revvity Omics, Revvity", "submitter_org_id": "167595" }, { "assertion_method": "ClinGen BRCA1 V1.1.0", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-11-11", "methods": [ "curation" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV005848150", "scv_version": 1, "stars": 1, "submitted": "2025-02-17", "submitter": "German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne", "submitter_org_id": "506864" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Likely pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "OMIM:604370", "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-09-28", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "19329713" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV006582311", "scv_version": 1, "stars": 1, "submitted": "2025-10-10", "submitter": "3billion", "submitter_org_id": "507830" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MONDO:0700268", "MedGen:CN377757" ], "name": "BRCA1-related cancer predisposition" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-07-29", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "7894493", "9525870", "10447273", "10788334", "11102977", "11278247", "11320250", "19594371", "20180014", "20345474", "20507347", "20569256", "21324516", "21503673", "21965345", "23695190", "24728189", "27433846", "29492181" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV004823691", "scv_version": 2, "stars": 1, "submitted": "2024-12-12", "submitter": "All of Us Research Program, National Institutes of Health", "submitter_org_id": "509529" }, { "assertion_method": "Assertion Criteria Germline", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MONDO:0003582", "MedGen:C0677776" ], "name": "Hereditary breast ovarian cancer syndrome" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-06-27", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "26381082", "20103620" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV007097383", "scv_version": 1, "stars": 1, "submitted": "2025-09-01", "submitter": "Department of Genomics, ADN Uruguay", "submitter_org_id": "510148" }, { "assertion_method": "ARUP Molecular Germline Variant Investigation Process 2024", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-06-09", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000602706", "scv_version": 5, "stars": 1, "submitted": "2025-01-28", "submitter": "ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories", "submitter_org_id": "25969" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C2676676" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-05-27", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV005045920", "scv_version": 1, "stars": 1, "submitted": "2024-05-27", "submitter": "Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet", "submitter_org_id": "1147" }, { "assertion_method": "ACMG Guidelines, 2015", "classification": "Pathogenic", "classification_type": "germline", "clinical_impact_significance": null, "clinical_impact_type": null, "conditions": [ { "ids": [ "MedGen:C3661900" ], "name": "Not provided" } ], "contributes_to_aggregate": false, "last_evaluated": "2024-04-30", "methods": [ "clinical testing" ], "origins": [ "germline" ], "pmids": [ "10447273", "10788334", "11102977", "14986830", "15290653", "16168118", "18824701", "19770520", "21324516", "21990134", "24504028", "24728189", "27433846", "30209399", "31347298", "32546644", "7894493", "8644702" ], "record_status": "current", "review_status": "criteria provided, single submitter", "scv_accession": "SCV000778779", "scv_version": 2, "stars": 1, "submitted": "2024-12-17", "submitter": "Mayo Clinic Laboratories, Mayo Clinic", "submitter_org_id": "500068" } ], "submissions_total": 77, "variant": { "canonical_spdi": "NC_000017.11:43106486:A:C", "cdna_change": "c.181T>G", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": "HGNC:1100", "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2015-08-10", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41258504, "stop": 41258504 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43106487, "stop": 43106487 } }, "molecular_consequences": [ "missense variant", "non-coding transcript variant" ], "name": "NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)", "oncogenicity": null, "protein_changes": [ "C61G", "C14G" ], "record_status": "current", "rsids": [ "rs28897672" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/17661/", "submission_count": 77, "variant_type": "single nucleotide variant", "variation_id": "17661", "vcv_accession": "VCV000017661", "version": 165, "xrefs": [ "BRCA1-HCI:BRCA1_00099", "ClinGen:CA001182", "UniProtKB:P38398#VAR_007757", "OMIM:113705.0002" ] } } ``` ### Search - Capability: `variants/search` - Description: Search ClinVar variants. `query` takes a gene-and-change (`BRCA1 c.181T>G`), an HGVS name (`NM_007294.4(BRCA1):c.181T>G`, `NC_000017.11:g.43106487A>C`), an rsID, a canonical SPDI, a VCV or RCV accession, a ClinGen allele ID or free text in Entrez syntax with ClinVar fields (`[gene]`, `[dis]`, `[vrnm]`); filters narrow by gene symbol, condition (name or MedGen, OMIM, MONDO, Orphanet or HPO ID), germline classification, review status or minimum stars, variant type and molecular consequence, and can be used without `query`. Each result is one variation (VCV) with name, type, coding and protein changes, genes, the aggregate germline classification with review status, stars, last evaluation and conditions, somatic clinical impact and oncogenicity, consequences, GRCh38 and GRCh37 location, rsIDs, canonical SPDI and cross-references. ClinVar orders results newest record first (it has no relevance sort); `total` counts every match and `next_offset` pages. A gene, condition or HGVS name ClinVar does not know gives an empty page with a message, never a broader search. - Instructions: To find ClinVar variants and how they are classified: the pathogenic variants in a gene, those reviewed by an expert panel, ClinVar's records for an rsID or HGVS name, or the variants reported for a disease. For one variant's submitter-level evidence use `get`. Use snp-ncbi-nlm-nih-gov for dbSNP's rsID records and population allele frequencies, alphafold-ebi-ac-uk `missense` for AlphaMissense predicted pathogenicity of missense changes ClinVar may not hold, gene-ncbi-nlm-nih-gov for what a gene is and where it lies, and orphadata-com for rare-disease prevalence and Orphanet's gene associations. - Cost: 5 credits per call - Capability file: [Search](https://firecrawl.dev/alexandria/agents/providers/clinvar-ncbi-nlm-nih-gov/variants/search) Accepted options: - `classification` (string): Aggregate germline classification. `pathogenic` also matches records aggregated as `Pathogenic/Likely pathogenic`; `pathogenic_or_likely_pathogenic` matches either; `conflicting` is `Conflicting classifications of pathogenicity`. Example: `pathogenic` - `condition` (string): Disease or phenotype name (`hereditary breast ovarian cancer`), or an ID: MedGen CUI (`C2676676`), OMIM (`OMIM:604370`), MONDO (`MONDO:0011450`), Orphanet (`ORPHA:145`) or HPO (`HP:0003002`). Example: `hereditary breast ovarian cancer` - `gene` (string): HGNC gene symbol, e.g. `BRCA1`. A symbol ClinVar does not know gives an empty page. Example: `BRCA1` - `limit` (number): Results per page. Example: `10` - `min_stars` (number): Only variants whose aggregate review status earns at least this many stars (2 = multiple submitters without conflicts or better). Example: `4` - `molecular_consequence` (string): Molecular consequence on any transcript. Example: `missense variant` - `offset` (number): Zero-based index of the first result; pass `next_offset` for the next page. Example: `0` - `query` (string): A variant reference (`BRCA1 c.181T>G`, `NM_007294.4:c.181T>G`, `rs28897672`, `NC_000017.11:43106486:A:C`, `VCV000017661`, `RCV000019229`, `CA001182`) or free text with Entrez ClinVar fields and AND, OR, NOT (`BRCA2[gene] AND founder`). An HGVS name must match ClinVar's transcript version. Example: `BRCA1 c.181T>G` - `review_status` (string[]): Aggregate review status, any of these. ClinVar's star ratings: practice guideline 4; expert panel 3; multiple submitters, no conflicts 2; single submitter or conflicting 1; the rest 0. Example: `[]` - `variant_type` (string): ClinVar variant type. Example: `single nucleotide variant` Response schema example: ```json { "entrez_query": "\"BRCA1\"[gene] AND clinsig_pathogenic[prop] AND \"reviewed by expert panel\"[RVST]", "filters": { "classification": "pathogenic", "condition": null, "gene": "BRCA1", "min_stars": null, "molecular_consequence": null, "review_status": [ "reviewed by expert panel" ], "variant_type": null }, "license": { "attribution": "Data from ClinVar, National Center for Biotechnology Information, U.S. National Library of Medicine (https://www.ncbi.nlm.nih.gov/clinvar/). Cite ClinVar, e.g. Landrum MJ et al., Nucleic Acids Res. 2018;46(D1):D1062-D1067 (PMID: 29165669).", "disclaimer": "ClinVar's information is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. NIH does not independently verify the submitted information.", "name": "Public domain (NCBI)", "rights": "NCBI places no restrictions on the use or distribution of its molecular data; some submitters may claim rights in the data they submitted.", "terms_url": "https://www.ncbi.nlm.nih.gov/clinvar/docs/maintenance_use/", "url": "https://www.ncbi.nlm.nih.gov/home/about/policies/" }, "limit": 10, "messages": [], "next_offset": 10, "observed_at_ms": 1793396497767, "offset": 0, "query": null, "query_translation": "\"BRCA1\"[gene] AND clinsig_pathogenic[prop] AND \"reviewed by expert panel\"[RVST]", "query_type": "none", "results": [ { "canonical_spdi": null, "cdna_change": null, "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2019-03-25", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": null, "grch38": null }, "molecular_consequences": [ "missense variant", "non-coding transcript variant", "intron variant" ], "name": "NC_000017.10:g.[41201181C>T;41201185A>T]", "oncogenicity": null, "protein_changes": [ "C1787S", "C1740S", "C1808S", "C683S", "C1698S", "C1699S", "C1717S", "C1719S", "C1739S", "C1744S", "C1745S", "C1759S", "C1767S", "C1783S", "C571S", "C602S", "C604S", "C614S", "C616S", "C636S", "C645S", "C684S", "C705S", "C706S", "C1491S", "C1618S", "C1633S", "C1660S", "C1674S", "C1715S", "C1716S", "C1720S", "C1761S", "C1782S", "C1785S", "C1786S", "C516S", "C570S", "C574S", "C595S", "C617S", "C682S", "C919S", "C1658S", "C1659S", "C1676S", "C1697S", "C1738S", "C1746S", "C1760S", "C1784S", "C1807S", "C375S", "C556S", "C596S", "C612S", "C613S", "C635S", "C637S", "C639S", "C641S", "C642S", "C644S", "C658S", "C680S", "C1490S", "C1675S", "C1718S", "C1743S", "C1768S", "C1809S", "C507S", "C557S", "C575S", "C594S", "C643S", "C657S", "C659S", "C681S", "C918S", "G1788D", "G684D", "G1809D", "G1741D", "G1491D", "G1676D", "G1698D", "G1717D", "G1718D", "G1761D", "G1769D", "G1785D", "G508D", "G557D", "G572D", "G595D", "G605D", "G636D", "G638D", "G645D", "G658D", "G660D", "G682D", "G706D", "G1492D", "G1619D", "G1634D", "G1659D", "G1740D", "G1744D", "G1747D", "G1760D", "G1762D", "G1768D", "G1787D", "G376D", "G596D", "G603D", "G614D", "G618D", "G637D", "G642D", "G644D", "G646D", "G659D", "G681D", "G683D", "G1660D", "G1661D", "G1677D", "G1700D", "G1719D", "G1720D", "G1784D", "G1786D", "G1808D", "G1810D", "G571D", "G597D", "G613D", "G617D", "G640D", "G707D", "G919D", "G920D", "G1675D", "G1699D", "G1716D", "G1721D", "G1739D", "G1745D", "G1746D", "G1783D", "G517D", "G558D", "G575D", "G576D", "G615D", "G643D", "G685D" ], "record_status": "current", "rsids": [ "rs80357065", "rs80357069" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/624568/", "submission_count": 1, "variant_type": "Haplotype", "variation_id": "624568", "vcv_accession": "VCV000624568", "version": 3, "xrefs": [ "ClinVar:624568", "BRCA1-HCI:BRCA1_00001", "ClinGen:CA003525", "ClinGen:CA003529" ] }, { "canonical_spdi": "NC_000017.11:43067673::G", "cdna_change": "c.5008_5009insC", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41219690, "stop": 41219691 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43067673, "stop": 43067674 } }, "molecular_consequences": [ "frameshift variant", "non-coding transcript variant" ], "name": "NM_007294.4(BRCA1):c.5008_5009insC (p.Arg1670fs)", "oncogenicity": null, "protein_changes": [ "R1691fs", "R1623fs", "R1670fs", "R566fs" ], "record_status": "current", "rsids": [ "rs1555579738" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548322/", "submission_count": 1, "variant_type": "Insertion", "variation_id": "548322", "vcv_accession": "VCV000548322", "version": 2, "xrefs": [ "ClinGen:CA658824727" ] }, { "canonical_spdi": "NC_000017.11:43094445:T:TT", "cdna_change": "c.1085dup", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41246462, "stop": 41246463 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43094445, "stop": 43094446 } }, "molecular_consequences": [ "frameshift variant", "intron variant" ], "name": "NM_007294.4(BRCA1):c.1085dup (p.Asn363fs)", "oncogenicity": null, "protein_changes": [ "N316fs", "N363fs", "N293fs", "N322fs", "N360fs", "N67fs", "N195fs", "N235fs", "N236fs", "N251fs", "N362fs", "N275fs", "N321fs", "N252fs", "N274fs", "N292fs", "N295fs", "N296fs", "N315fs", "N336fs", "N337fs" ], "record_status": "current", "rsids": [ "rs1555592537" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548321/", "submission_count": 1, "variant_type": "Duplication", "variation_id": "548321", "vcv_accession": "VCV000548321", "version": 2, "xrefs": [ "ClinGen:CA658824539" ] }, { "canonical_spdi": "NC_000017.11:43124025::T", "cdna_change": "c.71_72insA", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41276042, "stop": 41276043 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43124025, "stop": 43124026 } }, "molecular_consequences": [ "frameshift variant", "nonsense", "5 prime UTR variant", "non-coding transcript variant" ], "name": "NM_007294.4(BRCA1):c.71_72insA (p.Cys24Ter)", "oncogenicity": null, "protein_changes": [ "C24*" ], "record_status": "current", "rsids": [ "rs1555600873" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548320/", "submission_count": 1, "variant_type": "Insertion", "variation_id": "548320", "vcv_accession": "VCV000548320", "version": 2, "xrefs": [ "ClinGen:CA658823844" ] }, { "canonical_spdi": "NC_000017.11:43093037:A:ACA", "cdna_change": "c.2493_2494insGT", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41245054, "stop": 41245055 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43093037, "stop": 43093038 } }, "molecular_consequences": [ "frameshift variant", "intron variant" ], "name": "NM_007294.4(BRCA1):c.2493_2494insGT (p.Pro832fs)", "oncogenicity": null, "protein_changes": [ "P832fs", "P785fs", "P743fs", "P761fs", "P764fs", "P784fs", "P791fs", "P831fs", "P720fs", "P829fs", "P721fs", "P762fs", "P765fs", "P536fs", "P705fs", "P744fs", "P790fs", "P805fs", "P806fs", "P664fs", "P704fs" ], "record_status": "current", "rsids": [ "rs1555589547" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548319/", "submission_count": 1, "variant_type": "Insertion", "variation_id": "548319", "vcv_accession": "VCV000548319", "version": 2, "xrefs": [ "ClinGen:CA658824005" ] }, { "canonical_spdi": "NC_000017.11:43067638:A:ATTAA", "cdna_change": "c.5043_5044insTAAT", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41219655, "stop": 41219656 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43067638, "stop": 43067639 } }, "molecular_consequences": [ "frameshift variant", "nonsense", "non-coding transcript variant" ], "name": "NM_007294.4(BRCA1):c.5043_5044insTAAT (p.Glu1682Ter)", "oncogenicity": null, "protein_changes": [ "E578*", "E1703*", "E1635*", "E1682*" ], "record_status": "current", "rsids": [ "rs1555579675" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548318/", "submission_count": 1, "variant_type": "Insertion", "variation_id": "548318", "vcv_accession": "VCV000548318", "version": 2, "xrefs": [ "ClinGen:CA658824725" ] }, { "canonical_spdi": "NC_000017.11:43094575::AC", "cdna_change": "c.955_956insGT", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41246592, "stop": 41246593 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43094575, "stop": 43094576 } }, "molecular_consequences": [ "frameshift variant", "intron variant" ], "name": "NM_007294.4(BRCA1):c.955_956insGT (p.Asn319fs)", "oncogenicity": null, "protein_changes": [ "N272fs", "N319fs", "N252fs", "N292fs", "N192fs", "N207fs", "N208fs", "N230fs", "N231fs", "N277fs", "N316fs", "N191fs", "N248fs", "N249fs", "N251fs", "N293fs", "N318fs", "N151fs", "N23fs", "N271fs", "N278fs" ], "record_status": "current", "rsids": [ "rs1555592770" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548317/", "submission_count": 1, "variant_type": "Insertion", "variation_id": "548317", "vcv_accession": "VCV000548317", "version": 2, "xrefs": [ "ClinGen:CA658824547" ] }, { "canonical_spdi": null, "cdna_change": "c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41244471, "stop": 41244472 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43092454, "stop": 43092455 } }, "molecular_consequences": [ "inframe indel", "nonsense", "intron variant" ], "name": "NM_007294.4(BRCA1):c.3076_3077insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (p.Ile1026delinsArgLysThrLeuArgAsnIleGlnCysHisLeuLysGluLysTrpGluMetArgSerPheGlnValGlnTer)", "oncogenicity": null, "protein_changes": [], "record_status": "current", "rsids": [ "rs1555588427" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548316/", "submission_count": 1, "variant_type": "Microsatellite", "variation_id": "548316", "vcv_accession": "VCV000548316", "version": 2, "xrefs": [] }, { "canonical_spdi": "NC_000017.11:43094485:CACACA:CACA", "cdna_change": "c.1044_1045del", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41246503, "stop": 41246504 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43094486, "stop": 43094487 } }, "molecular_consequences": [ "frameshift variant", "nonsense", "intron variant" ], "name": "NM_007294.4(BRCA1):c.1044_1045del (p.Cys348_Glu349delinsTer)", "oncogenicity": null, "protein_changes": [], "record_status": "current", "rsids": [ "rs1555592601" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548315/", "submission_count": 2, "variant_type": "Microsatellite", "variation_id": "548315", "vcv_accession": "VCV000548315", "version": 5, "xrefs": [ "ClinGen:CA658824542" ] }, { "canonical_spdi": "NC_000017.11:43093999:CTGATGTAGGTCT:CT", "cdna_change": "c.1521_1531del", "clinical_impact": null, "gene_count": 1, "genes": [ { "gene_id": "672", "hgnc_id": null, "symbol": "BRCA1" } ], "germline_classification": { "classification": "Pathogenic", "conditions": [ { "ids": [ "ORPHA:145", "MedGen:C2676676", "MONDO:0011450", "OMIM:604370" ], "name": "Breast-ovarian cancer, familial, susceptibility to, 1" } ], "last_evaluated": "2017-12-15", "review_status": "reviewed by expert panel", "stars": 3 }, "location": { "grch37": { "chromosome": "17", "cytoband": "17q21.31", "start": 41246017, "stop": 41246027 }, "grch38": { "chromosome": "17", "cytoband": "17q21.31", "start": 43094000, "stop": 43094010 } }, "molecular_consequences": [ "frameshift variant", "intron variant" ], "name": "NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs)", "oncogenicity": null, "protein_changes": [ "T462fs", "T509fs", "T382fs", "T421fs", "T438fs", "T439fs", "T461fs", "T508fs", "T381fs", "T420fs", "T467fs", "T483fs", "T398fs", "T442fs", "T482fs", "T213fs", "T341fs", "T397fs", "T441fs", "T468fs", "T506fs" ], "record_status": "current", "rsids": [ "rs1555591596" ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/variation/548314/", "submission_count": 3, "variant_type": "Deletion", "variation_id": "548314", "vcv_accession": "VCV000548314", "version": 17, "xrefs": [ "ClinGen:CA658824520" ] } ], "source_url": "https://www.ncbi.nlm.nih.gov/clinvar/?term=%22BRCA1%22%5Bgene%5D+AND+clinsig_pathogenic%5Bprop%5D+AND+%22reviewed+by+expert+panel%22%5BRVST%5D", "total": 2243 } ```