Evidence Repository

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Curation History

Variant: CA2802458 444626

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.1861C>G (p.Arg621Gly)	Uncertain Significance	mucopolysaccharidosis type 1	2024-12-16	1.3	ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0	IDUA
View	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	Uncertain Significance	mucopolysaccharidosis type 1	2024-12-16	1.2	ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0	IDUA
View	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	Uncertain Significance	mucopolysaccharidosis type 1	2024-12-15	1.1	ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0	IDUA
View	NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)	Uncertain Significance	mucopolysaccharidosis type 1	2024-12-15	1.0	ClinGen Lysosomal Diseases Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for IDUA Version 1.0.0	IDUA

Showing 1 to 4 of 4 rows

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