ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4396G>T (p.Ala1466Ser) (rs1554864704)

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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 RCV000600109 SCV000731824 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Ala1466Ser variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, or in large population studies. Computati onal prediction tools and conservation analyses do not provide strong support fo r or against an impact to the protein. In summary, the clinical significance of the p.Ala1466Ser variant is uncertain.

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