Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217144 | SCV000272612 | uncertain significance | not specified | 2015-03-24 | criteria provided, single submitter | clinical testing | The c.24154+5T>C 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 do not suggest an impact to splicing. H owever, this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the c.24154+5T>C variant is uncertain. |
Invitae | RCV000542275 | SCV000642914 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-06-06 | criteria provided, single submitter | clinical testing |