The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
Curation History
Variant: CA409107542 549555
VCEP: Monogenic Diabetes VCEP
Showing 1 to 1 of 1 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) | Likely Pathogenic | monogenic diabetes | 2024-09-26 | 1.0 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for HNF4A Version 2.0.0 | HNF4A |
Showing 1 to 1 of 1 rows