Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258520 | SCV000320904 | pathogenic | Global developmental delay; Abnormal facial shape; Hypoplasia of the frontal lobes; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |