Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000595768 | SCV000701076 | likely benign | not specified | 2017-05-24 | criteria provided, single submitter | clinical testing | |
CHEO Genetics Diagnostic Laboratory, |
RCV000769892 | SCV000901318 | likely benign | Cardiomyopathy | 2016-08-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001445697 | SCV001648731 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2022-10-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000643519 | SCV001857611 | benign | not provided | 2020-02-17 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840686 | SCV002102236 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840687 | SCV002102237 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840688 | SCV002102238 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840685 | SCV002102240 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing |