ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6249G>A (p.Pro2083=) (rs55964031)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000039242 SCV000731174 benign not specified 2017-03-16 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000039242 SCV000062926 benign not specified 2011-01-10 criteria provided, single submitter clinical testing Pro2083Pro in exon 47 of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located near a splice junction, was identified in 8/50 (16%) Black individuals (rs55964031), and is reported as a polymorphism in the UMD database.

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