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See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)
Pathogenic
Pendred syndrome2025-01-06
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 2SLC26A4
View NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val)
Likely Pathogenic
Pendred syndrome2020-09-24
1.1
-SLC26A4
View NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val)
Likely Pathogenic
Pendred syndrome2019-07-17
1.0
-SLC26A4
Showing 1 to 3 of 3 rows