ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7467C>T (p.Arg2489=) (rs111033289)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039267 SCV000167623 benign not specified 2013-04-08 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 RCV000377904 SCV000363863 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000285813 SCV000363864 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039267 SCV000062951 benign not specified 2011-09-12 criteria provided, single submitter clinical testing Arg2489Arg in exon 53 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction and is listed is dbSNP (rs111033289) with a frequency of 15% ( 18/120 chromosomes) in the East Asian population and 3.9% (49/1256 chromosomes) in the general population.

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