ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2171G>A (p.Arg724His) (rs374955091)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150282 SCV000197307 uncertain significance not specified 2014-07-09 criteria provided, single submitter clinical testing The Arg724His variant in CDH23 has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (1/3864) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/ EVS/; dbSNP rs374955091). Although this variant has been seen in the general pop ulation, its frequency is not high enough to rule out a pathogenic role. Computa tional prediction tools and conservation analyses suggest that the Arg724His var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the Arg724His variant is uncertain
Invitae RCV000977887 SCV001125809 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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