Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156081 | SCV000205794 | uncertain significance | not specified | 2013-11-12 | criteria provided, single submitter | clinical testing | The Gly30152Ser variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. Computational analyses are li mited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of the Gly30152Ser variant. |