Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000860995 | SCV001001190 | likely benign | Arrhythmogenic right ventricular dysplasia 10 | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001181797 | SCV001347023 | likely benign | Cardiomyopathy | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001531284 | SCV001746312 | likely benign | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | DSG2: BP4, BP7 |
Ambry Genetics | RCV002434057 | SCV002745819 | likely benign | Cardiovascular phenotype | 2022-04-25 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: 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. |