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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
Uncertain Significance
glycogen storage disease II2024-06-18
1.0
ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2GAA
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