Submissions for variant NM_022124.6(CDH23):c.2970C>T (p.Asp990=)

gnomAD frequency: 0.00289  dbSNP: rs56216952

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037086	SCV000060743	benign	not specified	2012-12-28	criteria provided, single submitter	clinical testing	Asp990Asp in Exon 26A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.4% (35/8480) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs56216952).
Eurofins Ntd Llc (ga)	RCV000037086	SCV000228382	likely benign	not specified	2014-11-21	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000329264	SCV000363673	likely benign	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 and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV000381475	SCV000363674	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.
GeneDx	RCV000881810	SCV000729530	benign	not provided	2018-09-04	criteria provided, single submitter	clinical testing
Invitae	RCV000881810	SCV001025005	benign	not provided	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000881810	SCV001143506	benign	not provided	2019-07-09	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000329264	SCV001653372	likely benign	Usher syndrome type 1D	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000881810	SCV001748236	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	CDH23: BP4, BP7, BS2
Natera, Inc.	RCV001831652	SCV002089967	benign	Usher syndrome type 1	2019-10-21	no assertion criteria provided	clinical testing