ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4210-7C>T (rs79271090)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039173 SCV000062857 benign not specified 2012-04-27 criteria provided, single submitter clinical testing 4210-7C>T in intron 34 of CDH23: This variant is not expected to have clinical s ignificance because it has been identified in 4.5% (160/3562) of African America n chromosomes from a broad population by the NHLBI Exome sequencing project (htt p://evs.gs.washington.edu/EVS/; dbSNP rs79271090).
Illumina Clinical Services Laboratory,Illumina RCV000331286 SCV000363733 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000383525 SCV000363734 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039173 SCV000512539 benign not specified 2016-04-11 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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000039173 SCV000602955 benign not specified 2015-11-23 criteria provided, single submitter clinical testing
Invitae RCV000959110 SCV001105999 benign not provided 2019-03-05 criteria provided, single submitter clinical testing

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