ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5219A>T (p.Asn1740Ile) (rs397517336)

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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 RCV000039204 SCV000062888 uncertain significance not specified 2013-03-09 criteria provided, single submitter clinical testing The Asn1740Ile 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, and SIFT) do not provide strong sup port for or against an impact to the protein. In summary, additional data is ne eded to determine the clinical significance of this variant.

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