Submissions for variant NM_022124.6(CDH23):c.6713-8G>A

gnomAD frequency: 0.00176  dbSNP: rs369946986

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000150310	SCV000197395	likely benign	not specified	2013-06-25	criteria provided, single submitter	clinical testing	6713-8G>A in Intron 48 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 0.5% (20/3862) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS).
Eurofins Ntd Llc (ga)	RCV000150310	SCV000339961	benign	not specified	2016-04-07	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000347943	SCV000363845	uncertain significance	Usher syndrome type 1D	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina	RCV004528874	SCV000363846	uncertain significance	CDH23-related disorder	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000303590	SCV000363847	uncertain significance	Autosomal recessive nonsyndromic hearing loss 12	2018-01-12	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000910899	SCV001055951	likely benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
GeneDx	RCV000910899	SCV001765595	likely benign	not provided	2020-03-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28912962)
Natera, Inc.	RCV001274905	SCV001459458	likely benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004528874	SCV004754403	benign	CDH23-related disorder	2020-03-16	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).