Submissions for variant NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) (rs45583140)

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000039308	SCV000062992	benign	not specified	2009-06-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000039308	SCV000167629	benign	not specified	2013-05-02	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.
PreventionGenetics,PreventionGenetics	RCV000039308	SCV000314004	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000363966	SCV000363937	likely benign	Retinitis pigmentosa-deafness syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000271717	SCV000363938	likely benign	Nonsyndromic Hearing Loss, Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000356182	SCV000483079	benign	Metachromatic leukodystrophy	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000261040	SCV000483080	benign	Combined saposin deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000316294	SCV000483081	benign	Galactosylceramide beta-galactosidase deficiency	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV000389375	SCV000483082	benign	Atypical Gaucher Disease	2016-06-14	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000039308	SCV000883551	benign	not specified	2018-07-12	criteria provided, single submitter	clinical testing
Mendelics	RCV000363966	SCV001138083	benign	Retinitis pigmentosa-deafness syndrome	2019-05-28	criteria provided, single submitter	clinical testing
NEI Ophthalmic Genomics Laboratory,National Institutes of Health	RCV000086979	SCV000119232	not provided	not provided		no assertion provided	not provided