Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156816 | SCV000206537 | uncertain significance | not specified | 2014-10-10 | criteria provided, single submitter | clinical testing | The 2309-21G>A variant in MYBPC3 has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in the 3' splice region. Computational tools do suggest an impact to splicing; howe ver, this information is not predictive enough to determine pathogenicity. In su mmary, the clinical significance of this variant is uncertain. |