ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4786C>T (p.Arg1596Cys) (rs372636295)

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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 RCV000218885 SCV000271562 uncertain significance not specified 2015-10-11 criteria provided, single submitter clinical testing The p.Arg1596Cys variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 4/6868 of African chromosomes by the Exome Aggregation Consortium (ExAC,; dbSNP r s372636295). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational predi ction tools suggest that the variant may impact the protein, though this informa tion is not predictive enough to assume pathogenicity. In summary, the clinical significance of the p.Arg1596Cys variant is uncertain.
Invitae RCV000969900 SCV001117445 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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