Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000601509 | SCV000712250 | uncertain significance | not specified | 2016-06-10 | criteria provided, single submitter | clinical testing | The p.Pro18444Leu variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis suggest that the p.Pro18444Leu variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Pro18444Leu variant is uncertain. |