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: CA202190 3048
VCEP: Hereditary Breast, Ovarian and Pancreatic Cancer VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000051.3(ATM):c.146C>G (p.Ser49Cys) | Benign | ATM-related cancer predisposition | 2025-09-15 | 2.0 | 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.146C>G (p.Ser49Cys) | Benign | hereditary breast cancer | 2022-07-11 | 1.1 | 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.146C>G (p.Ser49Cys) | Benign | hereditary breast cancer | 2022-03-09 | 1.0 | - | ATM |
Showing 1 to 3 of 3 rows