Submissions for variant NM_022124.6(CDH23):c.1227G>A (p.Ala409=)

gnomAD frequency: 0.00011  dbSNP: rs371212430

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155042	SCV000204726	likely benign	not specified	2012-04-30	criteria provided, single submitter	clinical testing	Ala409Ala in Exon 13 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 1/3360 African Americ an chromosomes from a broad population by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS).
Invitae	RCV000896264	SCV001040348	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937448	SCV004747232	likely benign	CDH23-related condition	2019-09-19	criteria provided, single submitter	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).
Clinical Genetics, Academic Medical Center	RCV000896264	SCV001979015	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000896264	SCV001980638	likely benign	not provided		no assertion criteria provided	clinical testing