Showing 1 to 2 of 2 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000152.4(GAA):c.545C>G (p.Thr182Arg)
Uncertain Significance
glycogen storage disease II2023-05-26
1.1
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
View NM_000152.4(GAA):c.545C>G (p.Thr182Arg)
Uncertain Significance
glycogen storage disease II2020-05-28
1.0
-GAA
Showing 1 to 2 of 2 rows