Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Hudson |
RCV000256438 | SCV000323197 | likely pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2016-08-11 | criteria provided, single submitter | research |