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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) | Likely Pathogenic | glycogen storage disease II | 2023-12-07 | 1.0 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
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