Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258645 | SCV000320759 | pathogenic | Global developmental delay; Seizure; Microphthalmia; Reduced visual acuity | 2016-08-20 | criteria provided, single submitter | research |