ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1038G>A (p.Pro346=) (rs74608315)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037088 SCV000225410 benign not specified 2014-11-07 criteria provided, single submitter clinical testing
GeneDx RCV000037088 SCV000167601 benign not specified 2013-05-12 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 RCV000037088 SCV000060745 benign not specified 2013-03-09 criteria provided, single submitter clinical testing Pro346Pro in Exon 11A of CDH23: This variant is not expected to have clinical si gnificance because it does not alter an amino acid residue, is not located withi n the splice consensus sequence, and has been identified in 0.9% (81/8568) of Eu ropean American chromosomes from a broad population by the NHLBI Exome Sequencin g Project (http://evs.gs.washington.edu/EVS; dbSNP rs74608315).

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