Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Talkowski Laboratory, |
RCV000258545 | SCV000320807 | uncertain significance | Motor delay; Sleep abnormality; Absent speech; Delayed speech and language development; Joint hypermobility; Intellectual disability, severe; Abnormality of the gastrointestinal tract; EEG with temporal focal spikes; Stereotypical hand wringing | 2016-08-20 | criteria provided, single submitter | research |