Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156079 | SCV000205792 | uncertain significance | not specified | 2013-09-27 | criteria provided, single submitter | clinical testing | The 44702-6T>A variant in TTN has not been previously reported in individuals wi th cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. This variant is located in the 3' splice region. Computational tools do not suggest an impact to splicing. However, this informa tion is not predictive enough to rule out pathogenicity. Additional information is needed to fully assess the clinical significance of the 44702-6T>A variant. |
Invitae | RCV001435686 | SCV001638512 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2020-03-16 | criteria provided, single submitter | clinical testing |