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: CA016843 90503
VCEP: InSiGHT Hereditary Colorectal Cancer/Polyposis VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg) | Pathogenic | Lynch syndrome | 2024-10-11 | 1.0 | ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH2 Version 1.0.0 | MSH2 |
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