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: CA115937 3029
VCEP: Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) | Pathogenic | hereditary breast cancer | 2022-07-12 | 1.2 | ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for ATM Version 1.1 | ATM |
| View | NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) | Pathogenic | hereditary breast cancer | 2022-04-14 | 1.1 | - | ATM |
| View | NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) | Pathogenic | hereditary breast cancer | 2022-03-09 | 1.0 | - | ATM |
Showing 1 to 3 of 3 rows