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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) | Likely Pathogenic | monogenic diabetes | 2023-07-17 | 1.0 | ClinGen Monogenic Diabetes Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GCK Version 1.0.0 | GCK |
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