View | NM_000152.5(GAA):c.1099del (p.Trp367fs) | Likely Pathogenic | glycogen storage disease II | 2023-03-10 | 3.0 | 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.1099del (p.Trp367fs) | Uncertain Significance | glycogen storage disease II | 2023-03-10 | 2.4 | 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.1099del (p.Trp367fs) | Uncertain Significance | glycogen storage disease II | 2023-03-10 | 2.3 | 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.1099del (p.Trp367fs) | Uncertain Significance | glycogen storage disease II | 2023-03-10 | 2.2 | 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.1099del (p.Trp367fs) | Uncertain Significance | glycogen storage disease II | 2023-03-10 | 2.1 | 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.1099del (p.Trp367fs) | Uncertain Significance | glycogen storage disease II | 2023-03-10 | 2.0 | 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.1099del (p.Trp367fs) | Likely Pathogenic | glycogen storage disease II | 2020-11-12 | 1.0 | - | GAA |