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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000162.5(GCK):c.364C>G (p.Leu122Val) | Likely Pathogenic | monogenic diabetes | 2024-03-11 | 1.0 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.3.0 | GCK |
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