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: CA386960529 447491
VCEP: Monogenic Diabetes VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000545.8(HNF1A):c.494G>A (p.Trp165Ter) | Pathogenic | monogenic diabetes | 2022-06-10 | 1.0 | - | HNF1A |
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