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: CA194225 186242
VCEP: Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) | Pathogenic | ATM-related cancer predisposition | 2025-01-13 | 1.0 | ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.3.0 | ATM |
Showing 1 to 1 of 1 rows