Submissions for variant NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)

gnomAD frequency: 0.01415  dbSNP: rs61732490

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039115	SCV000062797	benign	not specified	2011-10-05	criteria provided, single submitter	clinical testing	Gln58Arg in exon 4 of CDH23: This variant is not expected to have clinical signi ficance because this variant is listed in dbSNP with a frequency of 3.9% (21/540 control chromosomes - rs61732490). In addition, this residue is not highly cons erved with most other species having an arginine at this position.
PreventionGenetics, part of Exact Sciences	RCV000039115	SCV000313964	benign	not specified		criteria provided, single submitter	clinical testing
Invitae	RCV000891460	SCV001035279	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001102960	SCV001259661	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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001104871	SCV001261766	likely benign	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 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000891460	SCV001471710	benign	not provided	2023-09-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000891460	SCV001856481	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276797	SCV001463346	benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing