Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258728 | SCV000320763 | pathogenic | Pectus excavatum; Global developmental delay; Failure to thrive; Hearing impairment; Hypoglycemia; Optic nerve hypoplasia; Absent speech; Abnormality of the dentition; Carious teeth; Intellectual disability; Ventriculomegaly; Inability to walk; High myopia; Gastrostomy tube feeding in infancy; Cleft palate | 2016-08-20 | criteria provided, single submitter | research |