Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156850 | SCV000206571 | uncertain significance | not specified | 2014-10-08 | criteria provided, single submitter | clinical testing | The p.Thr30124Arg variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. Computational prediction to ols and conservation analysis do not provide strong support for or against an im pact to the protein. In summary, the clinical significance of the p.Thr30124Arg variant is uncertain. |
Invitae | RCV000642991 | SCV000764678 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-10-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003137687 | SCV003822835 | uncertain significance | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing |