Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000852330 | SCV000994967 | likely pathogenic | Neurodevelopmental disorder | 2019-09-18 | no assertion criteria provided | research | |
OMIM | RCV000984634 | SCV001132676 | pathogenic | Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia | 2019-12-23 | no assertion criteria provided | literature only |