Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825478 | SCV000966781 | uncertain significance | not specified | 2018-04-06 | criteria provided, single submitter | clinical testing | The c.47599-10C>G variant in TTN has not been previously reported in individuals with cardiomyopathy and was absent from large population studies. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this information is not predictive enough to rule out pat hogenicity. In summary, the clinical significance of the c.47599-10C>G variant i s uncertain. ACMG/AMP Criteria applied: PM2; BP4. |