ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9078G>C (p.Arg3026=) (rs727504725)

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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 RCV000156017 SCV000205729 uncertain significance not specified 2013-09-05 criteria provided, single submitter clinical testing The Arg3026Arg variant in CDH23 has not been reported in individuals with hearin g loss or in large population studies. Although this is a synonymous variant, it is located in the first base of the exon, which is part of the 3? splice region , and variants at this position can sometimes alter normal splicing. Computation al tools do not predict altered splicing, however, this information is not predi ctive enough to rule out pathogenicity. In summary, additional information is ne eded to fully assess the clinical significance of the Arg3026Arg variant.

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