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: CA195169 186558
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.3137T>C (p.Leu1046Pro) | Likely Pathogenic | hereditary breast cancer | 2022-07-12 | 1.3 | 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.3137T>C (p.Leu1046Pro) | Likely Pathogenic | hereditary breast cancer | 2022-04-14 | 1.2 | - | ATM |
| View | NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) | Likely Pathogenic | hereditary breast cancer | 2022-03-16 | 1.1 | - | ATM |
| View | NM_000051.3(ATM):c.3137T>C (p.Leu1046Pro) | Likely Pathogenic | hereditary breast cancer | 2022-03-09 | 1.0 | - | ATM |
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