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: CA401363493 1693549
VCEP: Lysosomal Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_001079804.3:c.796C>A | Uncertain Significance | glycogen storage disease II | 2022-06-30 | 1.0 | - | GAA |
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