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See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
|---|---|---|---|---|---|---|---|
| View | NM_000329.3(RPE65):c.700C>T (p.Arg234Ter) | Pathogenic | RPE65-related recessive retinopathy | 2023-12-22 | 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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