Total submissions: 11
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172675 | SCV000051240 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV001082974 | SCV000286615 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-02 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172675 | SCV001152949 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS2 |
Genome- |
RCV001840219 | SCV002101316 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840220 | SCV002101317 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840221 | SCV002101318 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840218 | SCV002101319 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000172675 | SCV001741027 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000172675 | SCV001798376 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000172675 | SCV001931728 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172675 | SCV001968764 | likely benign | not provided | no assertion criteria provided | clinical testing |