ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6253+4A>G (rs1554874375)

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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 RCV000601844 SCV000731558 uncertain significance not specified 2017-04-25 criteria provided, single submitter clinical testing The c.6253+4A>G variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, and it was absent from large population st udies. This variant is located in the 5' splice region. Computational tools sugg est a possible impact to splicing. However, this information is not predictive e nough to rule out pathogenicity. In summary, the clinical significance of the c. 6253+4A>G variant is uncertain.

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