ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8726G>A (p.Ser2909Asn) (rs397517361)

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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 RCV000039288 SCV000062972 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The Ser2909Asn variant in CDH23 has not been reported in affected individuals or in large population studies. Computational analyses (biochemical amino acid pro perties, conservation, AlignGVGD, PolyPhen2) suggest that the Ser2909Asn variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, additional information is needed to fully assess the clinical significance of the variant.

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