Showing 1 to 7 of 7 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Likely Pathogenic
glycogen storage disease II2023-03-10
3.0
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Uncertain Significance
glycogen storage disease II2023-03-10
2.4
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Uncertain Significance
glycogen storage disease II2023-03-10
2.3
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Uncertain Significance
glycogen storage disease II2023-03-10
2.2
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Uncertain Significance
glycogen storage disease II2023-03-10
2.1
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Uncertain Significance
glycogen storage disease II2023-03-10
2.0
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.5(GAA):c.1099del (p.Trp367fs)
Likely Pathogenic
glycogen storage disease II2020-11-12
1.0
-GAA
Showing 1 to 7 of 7 rows