Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000643573 | SCV000765260 | uncertain significance | Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J | 2017-12-27 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002477425 | SCV002793776 | uncertain significance | 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 | 2021-10-16 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003140010 | SCV003826583 | uncertain significance | not provided | 2019-10-01 | criteria provided, single submitter | clinical testing | |
Pediatric/Medical Genetics, |
RCV003459534 | SCV004190120 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2J | criteria provided, single submitter | clinical testing |