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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) | Uncertain Significance | glycogen storage disease II | 2025-07-30 | 1.1 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
| View | NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) | Uncertain Significance | glycogen storage disease II | 2024-02-11 | 1.0 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
Showing 1 to 2 of 2 rows