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: CA234050 167113
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.1841C>A (p.Thr614Lys) | Pathogenic | glycogen storage disease II | 2020-05-28 | 1.0 | - | GAA |
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