Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000543315 | SCV000642943 | benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2024-01-03 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001672837 | SCV001887678 | likely benign | not provided | 2020-06-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840652 | SCV002101899 | benign | Autosomal recessive limb-girdle muscular dystrophy type 2J | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840653 | SCV002101900 | benign | Myopathy, myofibrillar, 9, with early respiratory failure | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840654 | SCV002101901 | benign | Early-onset myopathy with fatal cardiomyopathy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001840651 | SCV002101902 | benign | Tibial muscular dystrophy | 2021-09-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002491036 | SCV002794937 | likely benign | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 | 2021-08-23 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001672837 | SCV004042108 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | TTN: BP4, BP7 |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003403298 | SCV004122028 | likely benign | not specified | 2023-10-23 | criteria provided, single submitter | clinical testing |