Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605843 | SCV000712062 | uncertain significance | not specified | 2016-05-06 | criteria provided, single submitter | clinical testing | The p.Lys203Asn 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 conservation analysis do not provide strong support for or a gainst an impact to the protein. In summary, the clinical significance of the p. Lys203Asn variant is uncertain. |