Submissions for variant NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu)

gnomAD frequency: 0.00101  dbSNP: rs142857685

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039281	SCV000062965	benign	not specified	2014-10-19	criteria provided, single submitter	clinical testing	p.Val2723Leu in exon 57 of CDH23: This variant is not expected to have clinical significance because it has been identified in 5.2% (10/192) of LWK (Kenyan) chr omosomes by the 1000 Genomes Project and in 0.2% (9/4222) of African American ch romosomes by the NHLBI Exome Sequencing Project and (http://evs.gs.washington.ed u/EVS/; rs111033480). In addition, the valine (Val) residue at position 2723 is not conserved across species, with at least 3 mammals (David's myotis, big brown bat, microbat) having a leucine (Leu) at this position.
PreventionGenetics, part of Exact Sciences	RCV000039281	SCV000313999	benign	not specified		criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000725935	SCV000340639	uncertain significance	not provided	2016-05-10	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000725935	SCV001022043	likely benign	not provided	2024-11-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001108161	SCV001265365	benign	Usher syndrome type 1D	2017-08-30	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 was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Laboratory Services, Illumina	RCV001108162	SCV001265366	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2017-08-30	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.
Natera, Inc.	RCV001276044	SCV001461872	uncertain significance	Usher syndrome type 1	2020-04-17	no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000725935	SCV001799474	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000725935	SCV001974175	likely benign	not provided		no assertion criteria provided	clinical testing