Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152530 | SCV000201721 | uncertain significance | not specified | 2014-05-14 | criteria provided, single submitter | clinical testing | The Ala450Val variant in TTN has not been previously reported in individuals wit h cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impac t to the protein. In summary, the clinical significance of the Ala450Val variant is uncertain. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170878 | SCV001333500 | uncertain significance | Cardiomyopathy | 2018-10-01 | criteria provided, single submitter | clinical testing |