Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000156900 | SCV000206621 | uncertain significance | not specified | 2014-12-03 | criteria provided, single submitter | clinical testing | The p.Pro17433Leu variant in TTN has not been previously reported in individual with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Pro17433Leu varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, the clinical significance of the p.Pro17433Le u variant is uncertain. |
Invitae | RCV000643096 | SCV000764783 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-20 | criteria provided, single submitter | clinical testing |