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: CA286815 127374
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_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) | 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 |
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