Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hehr Laboratory, |
RCV000258204 | SCV000328439 | likely pathogenic | Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 | 2016-08-17 | no assertion criteria provided | clinical testing |