Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000499602 | SCV000593655 | pathogenic | Neonatal-onset encephalopathy with rigidity and seizures | 2016-01-14 | criteria provided, single submitter | clinical testing |