Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152367 | SCV000201293 | uncertain significance | not specified | 2014-03-14 | criteria provided, single submitter | clinical testing | The Leu1033Ile variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. Add itional information is needed to fully assess the clinical significance of the v ariant. |
CHEO Genetics Diagnostic Laboratory, |
RCV003149929 | SCV003838021 | likely benign | Cardiomyopathy | 2021-12-24 | criteria provided, single submitter | clinical testing |