Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV000250951 | SCV000311755 | likely benign | not specified | criteria provided, single submitter | clinical testing | ||
Invitae | RCV002058225 | SCV002336519 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-16 | criteria provided, single submitter | clinical testing |