Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000341250 | SCV000342224 | uncertain significance | not provided | 2016-06-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000648171 | SCV000769985 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2023-11-10 | criteria provided, single submitter | clinical testing |