ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8322_8324GAA[1] (p.Lys2775del) (rs876657758)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220041 SCV000271571 uncertain significance not specified 2015-02-24 criteria provided, single submitter clinical testing The p.Lys2775del variant in CDH23 has not been previously reported in individual s with hearing loss. This variant has been identified in 5/66052 of European chr omosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.o rg; variant reported in ExAC as p.Lys535del). Although this variant has been se en in the general population, its frequency is not high enough to rule out a pat hogenic role. This variant is a deletion of one acid at position 2775 and is not predicted to alter the protein reading-frame. Therefore, it is unclear if this deletion will impact the protein. In summary, the clinical significance of the p .Lys2775del variant is uncertain.
Blueprint Genetics RCV001074479 SCV001240064 uncertain significance Retinal dystrophy 2017-09-14 criteria provided, single submitter clinical testing

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