Submissions for variant NM_022124.6(CDH23):c.3999G>A (p.Val1333=)

gnomAD frequency: 0.00516  dbSNP: rs111033453

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039169	SCV000062853	benign	not specified	2013-02-06	criteria provided, single submitter	clinical testing	Val1333Val in Exon 32A of CDH23: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue, is not located with in the splice consensus sequence, and has been identified in 0.3% (24/8408) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs111033453).
Eurofins Ntd Llc (ga)	RCV000039169	SCV000702322	likely benign	not specified	2016-11-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000885396	SCV000714482	benign	not provided	2019-06-17	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18429043, 28027327)
Invitae	RCV000885396	SCV001028836	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001105666	SCV001262651	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV001105667	SCV001262652	likely benign	Usher syndrome type 1D	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
CeGaT Center for Human Genetics Tuebingen	RCV000885396	SCV004126733	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BS2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000885396	SCV001972159	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831664	SCV002090689	benign	Usher syndrome type 1	2019-12-09	no assertion criteria provided	clinical testing