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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter)
Pathogenic
GUCY2D-related recessive retinopathy2025-01-31
1.0
ClinGen Leber Congenital Amaurosis/early onset Retinal Dystrophy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for GUCY2D Version 1.0.0GUCY2D
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