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: CA003191 55374
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.5073A>G (p.Thr1691=) | Uncertain Significance | BRCA1-related cancer predisposition | 2024-06-11 | 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.5073A>G (p.Thr1691=) | Uncertain Significance | breast-ovarian cancer, familial, susceptibility to, 1 | 2023-10-10 | 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 2 of 2 rows