Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |
Gene |
RCV001588856 | SCV001824395 | likely benign | not provided | 2018-10-17 | criteria provided, single submitter | clinical testing | |
Prevention |
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, |
RCV000039813 | SCV001917027 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000039813 | SCV001966003 | benign | not specified | no assertion criteria provided | clinical testing |