Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258552 | SCV000320973 | likely pathogenic | Global developmental delay; Autistic behavior; Axial hypotonia; Clinodactyly of the 5th finger; Delayed speech and language development; Strabismus; Abnormal aggressive, impulsive or violent behavior; Severe global developmental delay | 2016-08-20 | criteria provided, single submitter | research |