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: CA16041904 370639
VCEP: Lysosomal Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.5(GAA):c.2242del (p.Glu748fs) | Pathogenic | glycogen storage disease II | 2024-03-26 | 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.2242del (p.Glu748fs) | Likely Pathogenic | glycogen storage disease II | 2024-01-15 | 1.1 | - | GAA |
| View | NM_000152.5(GAA):c.2242del (p.Glu748fs) | Likely Pathogenic | glycogen storage disease II | 2021-09-28 | 1.0 | - | GAA |
Showing 1 to 3 of 3 rows