Submissions for variant NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)

gnomAD frequency: 0.00069  dbSNP: rs148632119

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039220	SCV000062904	benign	not specified	2015-08-26	criteria provided, single submitter	clinical testing	Asn1847Asn in exon 43 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 1.6% (269/16510) of South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b roadinstitute.org; dbSNP rs148632119)
Eurofins Ntd Llc (ga)	RCV000039220	SCV000230634	benign	not specified	2014-11-17	criteria provided, single submitter	clinical testing
GeneDx	RCV000970460	SCV000714488	benign	not provided	2019-02-15	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 12075507, 22135276, 29148562)
Labcorp Genetics (formerly Invitae), Labcorp	RCV000970460	SCV001118038	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104397	SCV001261260	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 rule this variant out of causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001104398	SCV001261261	likely benign	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). 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000970460	SCV005228216	likely benign	not provided		criteria provided, single submitter	not provided
Clinical Genetics, Academic Medical Center	RCV000039220	SCV001919196	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000970460	SCV001967968	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831669	SCV002089497	benign	Usher syndrome type 1	2019-12-06	no assertion criteria provided	clinical testing