Submissions for variant NM_022124.6(CDH23):c.2781C>T (p.Tyr927=)

gnomAD frequency: 0.00123  dbSNP: rs375102725

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039133	SCV000062815	likely benign	not specified	2012-03-26	criteria provided, single submitter	clinical testing	Tyr927Tyr in exon 25 of CDH23: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence, and has been identified in 0.2% (7/3548) of Afri can American chromosomes in a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000905728	SCV001050322	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000905728	SCV001827104	likely benign	not provided	2020-09-16	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000905728	SCV003799914	likely benign	not provided	2022-07-15	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541121	SCV004776403	likely benign	CDH23-related disorder	2024-08-23	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).