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 deafness | 2024-03-28 | 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 2 | GJB2 |
View | NM_004004.5(GJB2):c.107T>C (p.Leu36Pro) | Uncertain Significance | nonsyndromic genetic deafness | 2024-03-28 | 1.2 | - | GJB2 |
View | NM_004004.5(GJB2):c.107T>C (p.Leu36Pro) | Uncertain Significance | nonsyndromic genetic deafness | 2024-03-28 | 1.1 | - | GJB2 |
View | NM_004004.5(GJB2):c.107T>C (p.Leu36Pro) | Uncertain Significance | nonsyndromic genetic deafness | 2019-07-17 | 1.0 | - | GJB2 |
Showing 1 to 4 of 4 rows