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: CA10605471 286458
VCEP: Lysosomal Diseases VCEP
Showing 1 to 3 of 3 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000152.4(GAA):c.1754+1G>A | Pathogenic | glycogen storage disease II | 2020-05-26 | 1.2 | - | GAA |
| View | NM_000152.4(GAA):c.1754+1G>A | Pathogenic | glycogen storage disease II | 2020-05-26 | 1.1 | - | GAA |
| View | NM_000152.4(GAA):c.1754+1G>A | Pathogenic | glycogen storage disease II | 2020-02-05 | 1.0 | - | GAA |
Showing 1 to 3 of 3 rows