Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503940 | SCV000596530 | uncertain significance | not specified | 2016-09-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000527512 | SCV000649897 | likely benign | Autosomal recessive limb-girdle muscular dystrophy type 2K; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1; Walker-Warburg congenital muscular dystrophy | 2024-01-24 | criteria provided, single submitter | clinical testing |