Showing 1 to 1 of 1 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg)
Benign
GUCY2D-related recessive retinopathy2025-01-30
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
Showing 1 to 1 of 1 rows