Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001189195 | SCV001356436 | likely benign | Cardiomyopathy | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001457357 | SCV001661159 | likely benign | Arrhythmogenic right ventricular dysplasia 11 | 2018-03-10 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002454114 | SCV002739345 | likely benign | Cardiovascular phenotype | 2019-12-30 | 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. |