Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000214580 | SCV000272600 | uncertain significance | not specified | 2015-10-01 | criteria provided, single submitter | clinical testing | The c.23030-9A>G variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant is located in t he 3' 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.23030-9A>G variant is uncertain. |
Eurofins Ntd Llc |
RCV000731117 | SCV000858894 | uncertain significance | not provided | 2018-01-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001397462 | SCV001599209 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-06-16 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV003150113 | SCV003838644 | uncertain significance | Cardiomyopathy | 2021-08-27 | criteria provided, single submitter | clinical testing |