Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258514 | SCV000320761 | uncertain significance | Global developmental delay; Atypical behavior; Abnormal facial shape; Myopia; Hypopigmentation of the skin; Mottled pigmentation; Intellectual disability; Infantile spasms; Hypotonia | 2016-08-20 | criteria provided, single submitter | research |