Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000734808 | SCV000862980 | uncertain significance | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001087469 | SCV001110754 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-31 | criteria provided, single submitter | clinical testing |