ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys) (rs771795434)

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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 RCV000616635 SCV000731546 uncertain significance not specified 2017-03-28 criteria provided, single submitter clinical testing The p.Glu851Lys variant in CDH23 has not been previously reported in individuals with hearing loss, but has been identified in 5/11572 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs771 795434). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinica l significance of the p.Glu851Lys variant is uncertain.

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