ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5789A>G (p.Asp1930Gly) (rs763582705)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219104 SCV000271565 uncertain significance not specified 2015-02-24 criteria provided, single submitter clinical testing The p.Asp1930Gly variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 1/42108 European chromosomes by the Exome Aggregation Consortium (ExAC, Computa tional prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determin e pathogenicity. In summary, the clinical significance of the p.Asp1930Gly varia nt is uncertain.

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