Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427354 | SCV000522263 | likely benign | not specified | 2015-12-17 | 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, |
RCV001188436 | SCV001355495 | likely benign | Cardiomyopathy | 2019-10-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001393479 | SCV001595142 | likely benign | Hypertrophic cardiomyopathy | 2023-12-17 | criteria provided, single submitter | clinical testing |