Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156625 | SCV000206346 | uncertain significance | not specified | 2014-07-01 | criteria provided, single submitter | clinical testing | The Lys14080Glu variant in TTN has not been previously reported in individuals w ith cardiomyopathy. Data from large population studies is insufficient to assess the frequency of this variant. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the Lys14080Glu variant is uncertain. |
Revvity Omics, |
RCV003137683 | SCV003821018 | uncertain significance | not provided | 2022-12-14 | criteria provided, single submitter | clinical testing |