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: CA214327 36830
VCEP: Monogenic Diabetes VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) | Likely Pathogenic | monogenic diabetes | 2025-08-05 | 1.3 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF1A Version 3.0.0 | HNF1A |
| View | NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) | Likely Pathogenic | monogenic diabetes | 2022-07-12 | 1.2 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1 | HNF1A |
| View | NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) | Likely Pathogenic | monogenic diabetes | 2022-04-14 | 1.1 | - | HNF1A |
| View | NM_000545.6(HNF1A):c.790G>T (p.Val264Phe) | Likely Pathogenic | monogenic diabetes | 2022-04-14 | 1.0 | - | HNF1A |
Showing 1 to 4 of 4 rows