Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000609429 | SCV000712369 | uncertain significance | not specified | 2016-07-18 | criteria provided, single submitter | clinical testing | The p.Glu27734Lys variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols are limited or unavailable for this variant. In summary, the clinical signif icance of the p.Glu27734Lys variant is uncertain. |