Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152271 | SCV000201116 | uncertain significance | not specified | 2014-08-28 | criteria provided, single submitter | clinical testing | The Leu17305Pro variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Leu17305Pro vari ant is uncertain. |
Ce |
RCV003886380 | SCV004702518 | uncertain significance | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing |