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

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Total submissions: 11

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000086979	SCV000883551	benign	not provided	2017-05-02	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.
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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine	RCV000039308	SCV000062992	benign	not specified	2009-06-12	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
PreventionGenetics	RCV000039308	SCV000314004	benign	not specified		criteria provided, single submitter	clinical testing

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