Total submissions: 14
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172677 | SCV000051431 | likely benign | not provided | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV001081269 | SCV000286608 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-31 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000172677 | SCV000609002 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BS2 |
Athena Diagnostics Inc | RCV000517437 | SCV000616064 | benign | not specified | 2017-05-04 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000172677 | SCV001159562 | likely benign | not provided | 2023-10-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840227 | SCV002101346 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840228 | SCV002101348 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840229 | SCV002101349 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840226 | SCV002101350 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000172677 | SCV001741106 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000517437 | SCV001918036 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000517437 | SCV001951731 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000172677 | SCV001970348 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Laboratory of Diagnostic Genome Analysis, |
RCV000172677 | SCV002036786 | likely benign | not provided | no assertion criteria provided | clinical testing |