Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000669620 | SCV000794391 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2I | 2017-10-07 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002499165 | SCV002812170 | uncertain significance | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1; Muscular dystrophy-dystroglycanopathy type B5; Autosomal recessive limb-girdle muscular dystrophy type 2I; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | 2021-07-19 | criteria provided, single submitter | clinical testing |