ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1449+74G>T

gnomAD frequency: 0.00906  dbSNP: rs115450602
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000039813 SCV000063503 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Cys508Phe in Exon 14 of CDH23: This variant is not expected to have clinical sig nificance because it has been identified in 2.7% (88/3278) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs115450602).
GeneDx RCV001588856 SCV001824395 likely benign not provided 2018-10-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003914961 SCV004734097 benign CDH23-related condition 2019-07-24 criteria provided, single submitter clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Academic Medical Center RCV000039813 SCV001917027 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000039813 SCV001966003 benign not specified no assertion criteria provided clinical testing

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