Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000619784 | SCV000737674 | likely benign | Cardiovascular phenotype | 2016-08-16 | 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. |
Color Diagnostics, |
RCV001187546 | SCV001354366 | likely benign | Cardiomyopathy | 2018-11-09 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001495806 | SCV001700495 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2022-11-13 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002677 | SCV004819516 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2023-12-13 | criteria provided, single submitter | clinical testing |