Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150374 | SCV000197505 | uncertain significance | not specified | 2014-07-31 | criteria provided, single submitter | clinical testing | The 26-12C>G variant in CTF1 has not been previously reported in individuals wit h cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. Howe ver, this information is not predictive enough to rule out pathogenicity. In sum mary, the clinical significance of the 26-12C>G variant is uncertain. |
Center for Advanced Laboratory Medicine, |
RCV000852713 | SCV000995427 | likely benign | Cardiomyopathy | 2019-01-10 | criteria provided, single submitter | clinical testing |