Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258750 | SCV000320849 | likely pathogenic | Global developmental delay; Autistic behavior; Expressive language delay; Receptive language delay; Delayed speech and language development; Impaired social interactions; Limited shoulder movement | 2016-08-20 | criteria provided, single submitter | research |