Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258771 | SCV000320983 | pathogenic | Obesity; Global developmental delay; Seizure; Short stature; Genu valgum; Deeply set eye; Dysarthria; Delayed speech and language development; Specific learning disability; Broad face; Prominent nasal bridge; Strabismus; Diastema; Swan neck-like deformities of the fingers; Metatarsus valgus; Increased overbite | 2016-08-20 | criteria provided, single submitter | research |