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: CA214317 36826
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.670C>T (p.Pro224Ser) | Likely Pathogenic | monogenic diabetes | 2021-12-30 | 1.0 | - | HNF1A |
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