ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9204G>A (p.Ala3068=) (rs192266658)

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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 RCV000150328 SCV000197424 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Ala3068Ala in Exon 64 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 0.7% (24/3642) of Af rican American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS).
GeneDx RCV000150328 SCV000714593 likely benign not specified 2018-02-19 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 RCV000883898 SCV001027237 benign not provided 2019-12-31 criteria provided, single submitter clinical testing

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