Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000152419 | SCV000201453 | uncertain significance | not specified | 2013-10-21 | criteria provided, single submitter | clinical testing | The Ser4058Leu variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational analyses are lim ited or unavailable for this variant. Additional information is needed to fully assess the clinical significance of this variant. |