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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
Uncertain Significance
Pendred syndrome2023-01-23
1.1
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 2SLC26A4
View NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)
Uncertain Significance
Pendred syndrome2019-09-25
1.0
-SLC26A4
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