The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA003343 55451
VCEP: ENIGMA BRCA1 and BRCA2 VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_007294.4(BRCA1):c.5194-12G>A | Pathogenic | BRCA1-related cancer predisposition | 2024-06-12 | 2.0 | ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0 | BRCA1 |
| View | NM_007294.4(BRCA1):c.5194-12G>A | Pathogenic | breast-ovarian cancer, familial, susceptibility to, 1 | 2024-04-23 | 1.1 | ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0 | BRCA1 |
| View | NM_007294.4(BRCA1):c.5194-12G>A | Pathogenic | breast-ovarian cancer, familial, susceptibility to, 1 | 2023-10-08 | 1.0 | ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA1 Version 1.0.0 | BRCA1 |
Showing 1 to 3 of 3 rows