Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001186196 | SCV001352547 | likely benign | Cardiomyopathy | 2019-12-29 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002451385 | SCV002612136 | likely benign | Cardiovascular phenotype | 2020-09-13 | 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. |
Labcorp Genetics |
RCV003770080 | SCV004687741 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-10-03 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004008588 | SCV004819986 | likely benign | Arrhythmogenic right ventricular cardiomyopathy | 2022-11-28 | criteria provided, single submitter | clinical testing |