Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000607383 | SCV000729305 | likely benign | not specified | 2017-12-05 | 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. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170704 | SCV001333298 | likely benign | Cardiomyopathy | 2019-03-11 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001170704 | SCV001358001 | likely benign | Cardiomyopathy | 2019-09-30 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001487498 | SCV001691987 | likely benign | Lethal congenital glycogen storage disease of heart | 2023-12-21 | criteria provided, single submitter | clinical testing | |
All of Us Research Program, |
RCV004002607 | SCV004842267 | likely benign | Hypertrophic cardiomyopathy | 2023-06-28 | criteria provided, single submitter | clinical testing |