Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155835 | SCV000205546 | uncertain significance | not specified | 2014-03-19 | criteria provided, single submitter | clinical testing | The Arg11451His variant in TTN has not been previously reported in individuals w ith cardiomyopathy, but has been identified in 1/8184 European American chromoso mes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/). C omputational prediction tools and conservation analysis suggest that this varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. Additional information is needed to fully assess the clin ical significance of this variant. |
Invitae | RCV000463510 | SCV000555564 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001697117 | SCV000719322 | likely benign | not provided | 2018-07-17 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001697117 | SCV003821766 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing |