Total submissions: 17
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000037291 | SCV000051375 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Laboratory for Molecular Medicine, |
RCV000037291 | SCV000060948 | benign | not specified | 2012-03-19 | criteria provided, single submitter | clinical testing | Ser883Pro in exon 15 of DGS2: This variant is not expected to have clinical sign ificance because it has been identified in 1.9% (57/3044) of African American ch romosomes from a broad population by the NHLBI Exome Sequencing Project (http:// evs.gs.washington.edu/EVS/; dbSNP rs34417028) |
Gene |
RCV000037291 | SCV000168247 | benign | not specified | 2013-10-10 | 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. |
Labcorp Genetics |
RCV001084577 | SCV000561398 | benign | Arrhythmogenic right ventricular dysplasia 10 | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV000029669 | SCV000911059 | benign | Cardiomyopathy | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, |
RCV000845405 | SCV000987470 | benign | not provided | criteria provided, single submitter | clinical testing | ||
Center for Advanced Laboratory Medicine, |
RCV000852743 | SCV000995460 | benign | Restrictive cardiomyopathy; Cardiomyopathy | 2018-08-13 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002490412 | SCV002799267 | benign | Arrhythmogenic right ventricular dysplasia 10; Dilated cardiomyopathy 1BB | 2021-12-03 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000029669 | SCV004240505 | benign | Cardiomyopathy | 2023-01-18 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000845405 | SCV004564815 | benign | not provided | 2023-10-10 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996119 | SCV004821821 | benign | Arrhythmogenic right ventricular cardiomyopathy | 2024-02-05 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000845405 | SCV005247219 | benign | not provided | criteria provided, single submitter | not provided | ||
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000029669 | SCV000052321 | benign | Cardiomyopathy | 2014-05-12 | no assertion criteria provided | clinical testing | |
Genome Diagnostics Laboratory, |
RCV000037291 | SCV001928659 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037291 | SCV001953787 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000037291 | SCV001974631 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037291 | SCV001979005 | benign | not specified | no assertion criteria provided | clinical testing |