Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics and Laboratory Diagnostics, |
RCV000623518 | SCV000740310 | uncertain significance | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | 2018-02-22 | criteria provided, single submitter | clinical testing |