Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000732620 | SCV000860595 | uncertain significance | not provided | 2018-04-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001504124 | SCV001708993 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-20 | criteria provided, single submitter | clinical testing |