ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.894G>A (p.Leu298=) (rs111033474)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039296 SCV000062980 benign not specified 2013-03-01 criteria provided, single submitter clinical testing Leu298Leu in exon 10 of CDH23: This variant is not expected to have clinical sig nificance because it has been identified in 1.5% (59/4050) of African American c hromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/E VS/; dbSNP rs111033474). In addition, it does not alter an amino acid residue an d is not near a splice junction.
GeneDx RCV000039296 SCV000723698 likely benign not specified 2017-10-25 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.
Invitae RCV000962018 SCV001109082 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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