Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001217935 | SCV001389798 | likely benign | RYR1-related disorder | 2024-01-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002504268 | SCV002814361 | uncertain significance | Central core myopathy; Malignant hyperthermia, susceptibility to, 1; Congenital multicore myopathy with external ophthalmoplegia; Congenital myopathy with fiber type disproportion; King Denborough syndrome | 2021-07-27 | criteria provided, single submitter | clinical testing |