Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV001182590 | SCV001348101 | likely benign | Cardiomyopathy | 2018-11-27 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV001260415 | SCV001437402 | likely benign | not specified | 2020-09-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002559036 | SCV002368194 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2023-07-30 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002418618 | SCV002680893 | likely benign | Cardiovascular phenotype | 2018-10-31 | 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. |
All of Us Research Program, |
RCV004008310 | SCV004822751 | likely benign | Catecholaminergic polymorphic ventricular tachycardia | 2023-11-30 | criteria provided, single submitter | clinical testing |