Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000863812 | SCV001004530 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001288572 | SCV001475785 | benign | not specified | 2020-06-05 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840754 | SCV002100416 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840755 | SCV002100417 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840756 | SCV002100418 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840753 | SCV002100419 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |