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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 retinopathy2024-02-20
1.0
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for RPE65 Version 1.0.0RPE65
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