ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2289+6T>G (rs727502924)

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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 RCV000150284 SCV000197309 uncertain significance not specified 2014-05-30 criteria provided, single submitter clinical testing The 2289+6T>G variant in CDH23 has not been previously reported in individuals w ith hearing loss or in large population studies. This variant is located in the 5' splice region. Computational tools suggest a possible impact to splicing; how ever, this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the 2289+6T>G variant is uncertain.

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