ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2290-13del (rs397517316)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039125 SCV000062807 benign not specified 2014-10-02 criteria provided, single submitter clinical testing 2290-13delT in intron 21 of CDH23: This variant is not expected to have clinical significance because it has been identified in 2.32% (90/3876) of African Ameri can chromosomes by the NHLBI Exome Sequencing Project and 2.5% (9/490) of Africa n and African American (ASW, LWK, YRI) chromosomes by the 1000 Genomes Project ( http://evs.gs.washington.edu/EVS/; dbSNP 202233569). In addition, a deletion of a T nucleotide at this position does not diverge from the splice consensus sequ ence and is therefore unlikely to impact splicing.
Illumina Clinical Services Laboratory,Illumina RCV000338089 SCV000363633 uncertain significance Retinitis pigmentosa-deafness syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000374020 SCV000363634 uncertain significance Nonsyndromic Hearing Loss, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000279741 SCV000363635 uncertain significance CDH23-Related Disorders 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000039125 SCV000571685 likely benign not specified 2016-10-19 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.

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