Total submissions: 12
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000037284 | SCV000060941 | likely benign | not specified | 2010-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001529444 | SCV000732236 | likely benign | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177315 | SCV001341509 | likely benign | Cardiomyopathy | 2020-03-17 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001451075 | SCV001654695 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-10-22 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000037284 | SCV004038085 | likely benign | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV003996313 | SCV004819426 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004609297 | SCV005117128 | likely benign | Cardiovascular phenotype | 2024-04-27 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Diagnostic Laboratory, |
RCV001529444 | SCV001742914 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000037284 | SCV001923659 | benign | not specified | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV001529444 | SCV001926303 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000037284 | SCV001957652 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001529444 | SCV001969316 | likely benign | not provided | no assertion criteria provided | clinical testing |