Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000222261 | SCV000272599 | uncertain significance | not specified | 2015-02-16 | criteria provided, single submitter | clinical testing | The c.20207-13C>A variant in TTN 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 not suggest an impact to splicing. However, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.20207-13C>A variant is uncertain. |
Gene |
RCV001711998 | SCV001940448 | likely benign | not provided | 2019-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002054961 | SCV002454264 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-19 | criteria provided, single submitter | clinical testing |