Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152239 | SCV000201040 | uncertain significance | not specified | 2014-03-12 | criteria provided, single submitter | clinical testing | The Thr20238Ile 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. Additional information is needed to fully assess the clinical significance of the Thr20238Ile variant. |
Gene |
RCV001704097 | SCV000237465 | likely benign | not provided | 2020-05-05 | criteria provided, single submitter | clinical testing |