Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258705 | SCV000320800 | uncertain significance | Motor delay; Seizure; Nystagmus; Abnormal facial shape; Absent speech; Delayed speech and language development; Myopia; Penile hypospadias; Recurrent otitis media; Retinal coloboma; Abnormal periventricular white matter morphology; Mild conductive hearing impairment; Severe global developmental delay | 2016-08-20 | criteria provided, single submitter | research |