Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000441641 | SCV000520069 | likely benign | not specified | 2015-10-22 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Color Diagnostics, |
RCV001524792 | SCV001734744 | likely benign | Cardiomyopathy | 2020-10-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001865332 | SCV002230948 | likely benign | Arrhythmogenic cardiomyopathy with wooly hair and keratoderma; Arrhythmogenic right ventricular dysplasia 8 | 2023-08-04 | criteria provided, single submitter | clinical testing |