Submissions for variant NM_022124.6(CDH23):c.3801C>T (p.Thr1267=)

gnomAD frequency: 0.00193  dbSNP: rs56107171

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039164	SCV000062848	benign	not specified	2014-06-03	criteria provided, single submitter	clinical testing	Thr1267Thr 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% (25/8476) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs56107171), and in 1.2% (3/ 255) of hispanic chromosomes (CLM, IBS, PUR) by the 1000 Genomes Project.
Eurofins Ntd Llc (ga)	RCV000723699	SCV000114026	uncertain significance	not provided	2015-01-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000039164	SCV000167608	benign	not specified	2013-03-27	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000723699	SCV001102122	likely benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001103709	SCV001260501	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	RCV001103710	SCV001260502	uncertain significance	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. 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	RCV000723699	SCV001501995	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BP7
Natera, Inc.	RCV001272566	SCV001454658	likely benign	Usher syndrome type 1	2019-12-29	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039164	SCV001959016	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000039164	SCV001964633	benign	not specified		no assertion criteria provided	clinical testing