Submissions for variant NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)

gnomAD frequency: 0.00341  dbSNP: rs55717455

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039318	SCV000063002	benign	not specified	2013-05-13	criteria provided, single submitter	clinical testing	Pro3301Pro in exon 70 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, and has been identified in 0.2% (16/8498) of European America n chromosomes and 0.7% (28/4302) of African American chromosomes from a broad po pulation by the NHLBI Exome sequencing project, and in 16/2286 (0.7%) chromosome s from the 1000 Genome Project (http://evs.gs.washington.edu/EVS/; dbSNP rs55717 455).
GeneDx	RCV000039318	SCV000167631	benign	not specified	2013-03-29	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.
Eurofins Ntd Llc (ga)	RCV000039318	SCV000232383	likely benign	not specified	2015-01-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000362216	SCV000483119	likely benign	Galactosylceramide beta-galactosidase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000267313	SCV000483120	likely benign	Combined PSAP deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000324862	SCV000483121	likely benign	Metachromatic leukodystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000358601	SCV000483122	likely benign	Atypical Gaucher Disease	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000886795	SCV001030322	benign	not provided	2025-02-03	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001106299	SCV001263347	uncertain significance	Usher syndrome type 1D	2017-04-28	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.
Illumina Laboratory Services, Illumina	RCV001106300	SCV001263348	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2017-04-28	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.
CeGaT Center for Human Genetics Tuebingen	RCV000886795	SCV001961230	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001271956	SCV001453531	benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000039318	SCV001926208	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000886795	SCV001965956	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004541126	SCV004787957	benign	CDH23-related disorder	2020-11-03	no assertion criteria provided	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).