Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Whole genome laboratory; Baylor College of Medicine | RCV000144523 | SCV000189115 | pathogenic | Global developmental delay; Seizure; Delayed speech and language development; Intellectual disability; Neonatal hypotonia | 2014-09-15 | no assertion criteria provided | clinical testing | |
OMIM | RCV000149571 | SCV000196547 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2014-11-06 | no assertion criteria provided | literature only |