Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156097 | SCV000205810 | uncertain significance | not specified | 2014-05-22 | criteria provided, single submitter | clinical testing | The Glu11235Lys variant in TTN has not been previously reported in any other fam ilies with cardiomyopathy or in large population studies. Computational predicti on tools and conservation analysis suggest that this variant may impact the prot ein, though this information is not predictive enough to determine pathogenicity . In summary, the clinical significance of the Glu11235Lys variant is uncertain. |