Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431791 | SCV000534349 | likely benign | not specified | 2016-11-29 | 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, |
RCV001798815 | SCV002042172 | uncertain significance | Cardiomyopathy | 2019-10-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003766432 | SCV004683680 | likely benign | Hypertrophic cardiomyopathy | 2024-01-03 | criteria provided, single submitter | clinical testing |