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: CA204563 11909
VCEP: Lysosomal Diseases VCEP
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) | Pathogenic | mucopolysaccharidosis type 1 | 2025-01-02 | 1.0 | ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0 | IDUA |
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