Submissions for variant NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)

gnomAD frequency: 0.01037  dbSNP: rs41281330

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039191	SCV000062875	benign	not specified	2010-07-27	criteria provided, single submitter	clinical testing	Val1620Met in exon 39 of CDH23: This variant is not expected to have clinical si gnificance due to its occurrence at a similar frequency in the general populatio n and it has been reported as presumed non-pathogenic (Astuto 2002, Oshima 2008, Ouyang 2005). In addition, this variant is listed in dbSNP (rs41281330 - no fre quency data).
Eurofins Ntd Llc (ga)	RCV000039191	SCV000114030	benign	not specified	2013-11-20	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000991776	SCV001143511	benign	not provided	2018-11-19	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000991776	SCV001157027	benign	not provided	2023-10-02	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001104196	SCV001261039	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	RCV001106972	SCV001264091	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.
Invitae	RCV000991776	SCV001729383	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001104196	SCV001750380	benign	Usher syndrome type 1D	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001106972	SCV001750381	benign	Autosomal recessive nonsyndromic hearing loss 12	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000991776	SCV001945518	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 23591405, 27884173, 30245029)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000039191	SCV002103964	likely benign	not specified	2022-02-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000991776	SCV002585224	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	CDH23: BS1, BS2
Fulgent Genetics, Fulgent Genetics	RCV002490535	SCV002801213	benign	Autosomal recessive nonsyndromic hearing loss 12; Usher syndrome type 1D; Pituitary adenoma 5, multiple types	2022-05-04	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001272901	SCV001455325	benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039191	SCV001960165	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039191	SCV001972484	benign	not specified		no assertion criteria provided	clinical testing