Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Revvity Omics, |
RCV001783935 | SCV002021458 | likely pathogenic | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002482309 | SCV002800712 | likely pathogenic | 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 | 2022-03-17 | criteria provided, single submitter | clinical testing |