Submissions for variant NM_022124.6(CDH23):c.366T>C (p.Val122=)

gnomAD frequency: 0.74285  dbSNP: rs3802720

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000039162	SCV000062846	benign	not specified	2012-02-02	criteria provided, single submitter	clinical testing	Inferred frequency = 136/301
PreventionGenetics, part of Exact Sciences	RCV000039162	SCV000313975	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000380358	SCV000363551	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 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	RCV000288261	SCV000363552	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.
Invitae	RCV001512138	SCV001719500	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000288261	SCV001750259	benign	Usher syndrome type 1D	2021-07-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000380358	SCV001750260	benign	Autosomal recessive nonsyndromic hearing loss 12	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001512138	SCV001893638	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001276800	SCV001463349	benign	Usher syndrome type 1	2020-09-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000039162	SCV001739863	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000039162	SCV001958641	benign	not specified		no assertion criteria provided	clinical testing