ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3028C>A (p.Arg1010Ser) (rs727505173)

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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 RCV000156654 SCV000206375 uncertain significance not specified 2014-07-03 criteria provided, single submitter clinical testing The Arg1010Ser variant in CDH23 has not been previously reported in individuals with hearing loss or from large population studies. Computational prediction too ls and conservation analyses suggest this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summa ry, additional information is needed to fully assess the clinical significance o f this variant.

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