Showing 1 to 5 of 5 rows
See Report | Preferred Variant Title | Classification | Condition | Published Date | Version | Criteria Specification | Gene |
---|---|---|---|---|---|---|---|
View | NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) | Uncertain Significance | Usher syndrome | 2022-09-26 | 2.1 | 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 2 | CDH23 |
View | NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) | Uncertain Significance | Usher syndrome | 2019-10-18 | 2.0 | - | CDH23 |
View | NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) | Uncertain Significance | Usher syndrome type 1D | 2019-10-18 | 1.2 | - | CDH23 |
View | NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) | Uncertain Significance | Usher syndrome type 1D | 2019-10-18 | 1.1 | - | CDH23 |
View | NM_022124.5(CDH23):c.9565C>T (p.Arg3189Trp) | Uncertain Significance | Usher syndrome type 1D | 2019-07-17 | 1.0 | - | CDH23 |
Showing 1 to 5 of 5 rows