Showing 1 to 4 of 4 rows
See Report
Preferred Variant Title
Classification
Condition
Published Date
Version
Criteria Specification
Gene
View NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
Likely Pathogenic
nonsyndromic genetic deafness2024-03-28
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 2GJB2
View NM_004004.5(GJB2):c.107T>C (p.Leu36Pro)
Uncertain Significance
nonsyndromic genetic deafness2024-03-28
1.2
-GJB2
View NM_004004.5(GJB2):c.107T>C (p.Leu36Pro)
Uncertain Significance
nonsyndromic genetic deafness2024-03-28
1.1
-GJB2
View NM_004004.5(GJB2):c.107T>C (p.Leu36Pro)
Uncertain Significance
nonsyndromic genetic deafness2019-07-17
1.0
-GJB2
Showing 1 to 4 of 4 rows