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: CA124457 14930
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.365A>G (p.Tyr122Cys) | Likely Pathogenic | monogenic diabetes | 2021-10-29 | 1.0 | - | HNF1A |
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