Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223074 | SCV000272685 | uncertain significance | not specified | 2015-03-11 | criteria provided, single submitter | clinical testing | The p.Glu16083Gly variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction t ools and conservation analysis do not provide strong support for or against an i mpact to the protein. In summary, the clinical significance of the p.Glu16083Gly variant is uncertain. |