ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7501G>A (p.Asp2501Asn) (rs397517352)

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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 RCV000039269 SCV000062953 uncertain significance not specified 2012-10-18 criteria provided, single submitter clinical testing The Asp2501Asn variant in CDH23 has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, PolyPhen2, SIFT, AlignGVGD) do not provide strong support for or against pathogenicity. In summary, the clinical significance of t his variant cannot be determined with certainty at this time.

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