Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000828217 | SCV000969901 | likely benign | not provided | 2018-06-05 | 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. |
Invitae | RCV001400528 | SCV001602332 | likely benign | Hypertrophic cardiomyopathy | 2023-03-21 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798988 | SCV002042219 | uncertain significance | Cardiomyopathy | 2020-06-18 | criteria provided, single submitter | clinical testing |