Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000866431 | SCV001007521 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2023-12-23 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001190887 | SCV001358518 | likely benign | Cardiomyopathy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002390770 | SCV002702977 | likely benign | Cardiovascular phenotype | 2019-01-07 | 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. |
Fulgent Genetics, |
RCV000866431 | SCV002796442 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2022-01-22 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000866431 | SCV004562628 | likely benign | Arrhythmogenic right ventricular dysplasia 9 | 2023-09-15 | criteria provided, single submitter | clinical testing |