Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000220511 | SCV000272610 | uncertain significance | not specified | 2015-01-02 | criteria provided, single submitter | clinical testing | The c.23596+4T>G variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 5' splice region. Computational tools suggest a possible impact to splicing. However, this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the c.23596+4T>G variant is uncertain. |