The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
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Curation History
Variant: CA274102 188902
VCEP: Lysosomal Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) | Pathogenic | glycogen storage disease II | 2023-09-05 | 1.1 | ClinGen Lysosomal Storage Disorders Variant Curation Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2 | GAA |
| View | NM_000152.4(GAA):c.1942G>A (p.Gly648Ser) | Pathogenic | glycogen storage disease II | 2020-05-28 | 1.0 | - | GAA |
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