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: CA386973441 447484
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.1768G>A (p.Val590Met) | Uncertain Significance | monogenic diabetes | 2022-04-17 | 1.0 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1.1 | HNF1A |
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