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: CA8815136 284093
VCEP: Lysosomal Diseases VCEP
Showing 1 to 5 of 5 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) | Pathogenic | glycogen storage disease II | 2021-09-07 | 1.4 | - | GAA |
View | NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) | Pathogenic | glycogen storage disease II | 2021-09-07 | 1.3 | - | GAA |
View | NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) | Pathogenic | glycogen storage disease II | 2020-05-29 | 1.2 | - | GAA |
View | NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) | Pathogenic | glycogen storage disease II | 2020-05-28 | 1.1 | - | GAA |
View | NM_000152.4(GAA):c.1064T>C (p.Leu355Pro) | Pathogenic | glycogen storage disease II | 2020-05-28 | 1.0 | - | GAA |
Showing 1 to 5 of 5 rows