Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152426 | SCV000201474 | uncertain significance | not specified | 2014-09-17 | criteria provided, single submitter | clinical testing | The Thr3681Ile variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tools and conservation analysis are limited or unavailable for this variant. In summa ry, the clinical significance of the Thr3681Ile variant is uncertain. |