Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156600 | SCV000206319 | uncertain significance | not specified | 2014-06-30 | criteria provided, single submitter | clinical testing | The Ser5184Cys variant in TTN has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis do not provide strong support for or against an impa ct to the protein. In summary, the clinical significance of the Ser5184Cys varia nt is uncertain. |
Mayo Clinic Laboratories, |
RCV002260998 | SCV002541977 | uncertain significance | not provided | 2021-07-08 | criteria provided, single submitter | clinical testing |