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: CA124475 14942
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.335C>T (p.Pro112Leu) | Pathogenic | monogenic diabetes | 2022-07-12 | 1.1 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1 | HNF1A |
| View | NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) | Pathogenic | monogenic diabetes | 2022-04-08 | 1.0 | - | HNF1A |
Showing 1 to 2 of 2 rows