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: CA016588 89573
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_000179.3(MSH6):c.884A>G (p.Lys295Arg) | Uncertain Significance | Lynch syndrome | 2024-10-11 | 1.0 | ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for MSH6 Version 1.0.0 | MSH6 |
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