Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000440006 | SCV000513765 | likely benign | not specified | 2016-06-06 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV000770320 | SCV000901754 | uncertain significance | Cardiomyopathy | 2017-09-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002061440 | SCV002415758 | likely benign | Hypertrophic cardiomyopathy | 2023-10-14 | criteria provided, single submitter | clinical testing |