Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258710 | SCV000320817 | likely pathogenic | Global developmental delay; Autistic behavior; Low-set ears; Anteverted nares; Depressed nasal bridge; Short nose; Macrocephaly; Long philtrum; Prominent forehead; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |