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: CA013438 91386
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_000535.7(PMS2):c.989-2A>G | Likely Pathogenic | colorectal cancer, hereditary nonpolyposis, type 4 | 2024-10-17 | 1.0 | ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for PMS2 Version 1.0.0 | PMS2 |
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