Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000221890 | SCV000272722 | uncertain significance | not specified | 2015-02-18 | criteria provided, single submitter | clinical testing | The p.Cys19153Arg variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/8494 East Asian chromosomes b y the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that the p.Cys19153A rg variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.C ys19153Arg variant is uncertain. |
Eurofins Ntd Llc |
RCV000728824 | SCV000856441 | uncertain significance | not provided | 2017-08-22 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV001798709 | SCV002042603 | likely benign | Cardiomyopathy | 2021-02-26 | criteria provided, single submitter | clinical testing |