ClinVar Miner

Submissions for variant NM_022124.5(CDH23):c.1096G>A (p.Ala366Thr) (rs143282422)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000513678 SCV000610877 likely benign not provided 2017-09-07 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000037090 SCV000225409 benign not specified 2015-01-13 criteria provided, single submitter clinical testing
GeneDx RCV000037090 SCV000512535 benign not specified 2018-01-16 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 RCV000037090 SCV000060747 benign not specified 2013-01-30 criteria provided, single submitter clinical testing Ala366Thr in Exon 11A of CDH23: This variant is not expected to have clinical significance because it has been identified in 1.0% (88/8560) of European American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs143282422).
PreventionGenetics RCV000037090 SCV000313961 benign not specified criteria provided, single submitter clinical testing

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