Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258692 | SCV000320991 | pathogenic | Global developmental delay; Tall stature; Macrocephaly; Generalized myoclonic seizure; Premature eruption of permanent teeth; Abnormal ventricular septum morphology; Ventricular septal defect | 2016-08-20 | criteria provided, single submitter | research |