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
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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_000329.3(RPE65):c.361dup (p.Ser121fs) | Pathogenic | RPE65-related recessive retinopathy | 2024-02-20 | 1.0 | ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0 | RPE65 |
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