The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA024740 38078
VCEP: ENIGMA BRCA1 and BRCA2 VCEP
Showing 1 to 2 of 2 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000059.4(BRCA2):c.7008-5T>C | Likely Benign | BRCA2-related cancer predisposition | 2024-06-12 | 2.0 | ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0 | BRCA2 |
| View | NM_000059.4(BRCA2):c.7008-5T>C | Likely Benign | breast-ovarian cancer, familial, susceptibility to, 2 | 2023-10-10 | 1.0 | ClinGen ENIGMA BRCA1 and BRCA2 Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for BRCA2 Version 1.0.0 | BRCA2 |
Showing 1 to 2 of 2 rows