Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000219859 | SCV000272736 | uncertain significance | not specified | 2015-12-23 | criteria provided, single submitter | clinical testing | The p.Gly20301Ser variant in TTN has not been previously reported in individuals with cardiomyopathy and is absent from large population studies. Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine patho genicity. In summary, the clinical significance of the p.Gly20301Ser variant is uncertain. |
Revvity Omics, |
RCV003137814 | SCV003825519 | uncertain significance | not provided | 2022-02-07 | criteria provided, single submitter | clinical testing |