Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001244100 | SCV001417299 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2O; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829919 | SCV002089602 | uncertain significance | Muscle eye brain disease | 2020-12-07 | no assertion criteria provided | clinical testing |