Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001081567 | SCV000543037 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000474730 | SCV001146377 | benign | not provided | 2018-12-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000474730 | SCV001473027 | likely benign | not provided | 2023-11-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840572 | SCV002101405 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840573 | SCV002101406 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840574 | SCV002101407 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840571 | SCV002101408 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Clinical Genetics, |
RCV000474730 | SCV001921527 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000474730 | SCV001932914 | likely benign | not provided | no assertion criteria provided | clinical testing |