Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Lupski Lab, |
RCV000853107 | SCV000995962 | likely pathogenic | Seizure; Intellectual disability; Neurodevelopmental delay | 2019-05-30 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001261679 | SCV001438984 | likely pathogenic | Neurodevelopmental disorders | no assertion criteria provided | research |