ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9381-123C>A (rs775172553)

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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 RCV000609026 SCV000712177 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.His22Gln variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 2/1136 4 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa; dbSNP rs775172553); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation ana lyses do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.His22Gln variant is uncertain.

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