ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8650_8667del (p.Ser2884_His2889del) (rs397517359)

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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 RCV000039286 SCV000062970 uncertain significance not specified 2011-11-15 criteria provided, single submitter clinical testing The Ser2884_His2889del variant in CDH23 has not been reported in the literature nor previously identified by our laboratory. This variant results in an in-frame deletion of 5 amino acids located in the cadherin domain of the CDH23 protein p roduct, however its impact on the function of the protein cannot be predicted. I n summary, the clinical significance of this protein cannot be determined with c ertainty at this time.

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