Total submissions: 13
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biesecker Lab/Clinical Genomics Section, |
RCV000172801 | SCV000051618 | benign | not specified | 2013-06-24 | criteria provided, single submitter | research | |
Invitae | RCV000230117 | SCV000286605 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2016-01-25 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000997491 | SCV001152953 | likely benign | not provided | 2023-08-01 | criteria provided, single submitter | clinical testing | TTN: BP4 |
Genome- |
RCV001840243 | SCV002101360 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840244 | SCV002101361 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840245 | SCV002101362 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840242 | SCV002101363 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000997491 | SCV003799886 | likely benign | not provided | 2022-04-21 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000997491 | SCV001742465 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV000172801 | SCV001921309 | benign | not specified | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV000172801 | SCV001955374 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV000997491 | SCV001974073 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Genome Diagnostics Laboratory, |
RCV000997491 | SCV001978158 | likely benign | not provided | no assertion criteria provided | clinical testing |