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: CA8815626 281232
VCEP: Lysosomal Diseases VCEP
Showing 1 to 6 of 6 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.5(GAA):c.2152G>A (p.Val718Ile) | Likely Benign | glycogen storage disease II | 2024-05-21 | 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.2152G>A (p.Val718Ile) | Uncertain Significance | glycogen storage disease II | 2022-06-30 | 1.4 | - | GAA |
| View | NM_000152.5(GAA):c.2152G>A (p.Val718Ile) | Uncertain Significance | glycogen storage disease II | 2020-06-16 | 1.3 | - | GAA |
| View | NM_000152.5(GAA):c.2152G>A (p.Val718Ile) | Uncertain Significance | glycogen storage disease II | 2020-06-03 | 1.2 | - | GAA |
| View | NM_000152.5(GAA):c.2152G>A (p.Val718Ile) | Uncertain Significance | glycogen storage disease II | 2020-06-03 | 1.1 | - | GAA |
| View | NM_000152.5(GAA):c.2152G>A (p.Val718Ile) | Uncertain Significance | glycogen storage disease II | 2020-06-03 | 1.0 | - | GAA |
Showing 1 to 6 of 6 rows