Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156793 | SCV000206514 | uncertain significance | not specified | 2014-09-24 | criteria provided, single submitter | clinical testing | The Ala16198Pro variant in TTN has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Computational p rediction tools and evolutionary conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to det ermine pathogenicity. In summary, the clinical significance of the Ala16198Pro v ariant is uncertain. |
Genetic Services Laboratory, |
RCV000156793 | SCV000249266 | uncertain significance | not specified | 2015-04-10 | criteria provided, single submitter | clinical testing |