Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000151767 | SCV000200179 | uncertain significance | not specified | 2014-11-06 | criteria provided, single submitter | clinical testing | The c.7513-8T>G variant in RYR2 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' splice region. Computational tools do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.7513-8T>G variant is uncertain. |
Invitae | RCV002516052 | SCV000760707 | likely benign | Catecholaminergic polymorphic ventricular tachycardia 1 | 2022-08-30 | criteria provided, single submitter | clinical testing | |
Color Diagnostics, |
RCV001177589 | SCV001341826 | likely benign | Cardiomyopathy | 2018-12-03 | criteria provided, single submitter | clinical testing |