Submissions for variant NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)

gnomAD frequency: 0.00491  dbSNP: rs56013867

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039256	SCV000062940	benign	not specified	2012-05-14	criteria provided, single submitter	clinical testing	Leu2284Leu in Exon 50 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, has been identified in 0.5% (35/6928) of Europe an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs56013867) and is reported as be nign (Oshima 2008).
Eurofins Ntd Llc (ga)	RCV000039256	SCV000338223	benign	not specified	2016-01-27	criteria provided, single submitter	clinical testing
GeneDx	RCV000968472	SCV000729342	benign	not provided	2019-03-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 18429043, 28912962, 32637632)
Invitae	RCV000968472	SCV001115930	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000968472	SCV001157300	benign	not provided	2019-09-25	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001107987	SCV001265179	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	RCV001107988	SCV001265180	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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
CeGaT Center for Human Genetics Tuebingen	RCV000968472	SCV001748239	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BS2
Clinical Genetics, Academic Medical Center	RCV000039256	SCV001925679	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000968472	SCV001952619	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000968472	SCV001975839	likely benign	not provided		no assertion criteria provided	clinical testing
Natera, Inc.	RCV001831671	SCV002093211	benign	Usher syndrome type 1	2019-12-03	no assertion criteria provided	clinical testing