Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000611710 | SCV000723919 | likely benign | not specified | 2017-10-18 | 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, |
RCV001189432 | SCV001356720 | likely benign | Cardiomyopathy | 2019-08-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002064122 | SCV002450961 | likely benign | Hypertrophic cardiomyopathy | 2023-08-18 | criteria provided, single submitter | clinical testing |