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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
Likely Pathogenic
Usher syndrome type 12023-02-06
2.0
ClinGen Hearing Loss Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for CDH23, COCH, GJB2, KCNQ4, MYO6, MYO7A, SLC26A4, TECTA and USH2A Version 2MYO7A
View NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg)
Likely Pathogenic
Usher syndrome2020-03-18
1.0
-MYO7A
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