Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156433 | SCV000206151 | uncertain significance | not specified | 2014-03-18 | criteria provided, single submitter | clinical testing | The 11765-8T>C variant in TTN has not been previously reported in individuals wi th cardiomyopathy and data from large population studies are insufficient to ass ess the frequency of this variant. This variant is located in the 3' splice regi on. Computational tools do not suggest an impact to splicing. However, this info rmation is not predictive enough to rule out pathogenicity. Additional informati on is needed to fully assess the clinical significance of the 11765-8T>C variant . |
Invitae | RCV001456018 | SCV001659793 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2018-06-09 | criteria provided, single submitter | clinical testing |