ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln) (rs4747194)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000039262 SCV000706585 benign not specified 2017-02-27 criteria provided, single submitter clinical testing
GeneDx RCV000039262 SCV000167621 benign not specified 2013-01-08 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 RCV000299226 SCV000363853 likely benign Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000356417 SCV000363854 likely benign Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039262 SCV000062946 benign not specified 2009-06-12 criteria provided, single submitter clinical testing
PreventionGenetics RCV000039262 SCV000313995 benign not specified criteria provided, single submitter clinical testing

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