Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomics And Bioinformatics Analysis Resource, |
RCV000210277 | SCV000266333 | pathogenic | Global developmental delay; Seizure; Failure to thrive; Focal impaired awareness seizure; Strabismus; Limb hypertonia | 2016-02-10 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000755058 | SCV000882874 | likely pathogenic | Seizure; Hypotonia; Neurodevelopmental Disability | 2016-05-05 | no assertion criteria provided | research |