Showing 1 to 3 of 3 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_004086.2(COCH):c.355G>A (p.Ala119Thr)
Uncertain Significance
nonsyndromic genetic deafness2023-02-06
1.2
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 2COCH
View NM_004086.2(COCH):c.355G>A (p.Ala119Thr)
Uncertain Significance
nonsyndromic genetic deafness2022-09-26
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 2COCH
View NM_004086.2(COCH):c.355G>A (p.Ala119Thr)
Uncertain Significance
nonsyndromic genetic deafness2019-07-17
1.0
-COCH
Showing 1 to 3 of 3 rows