Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000224127 | SCV000280816 | likely pathogenic | not provided | 2016-04-25 | criteria provided, single submitter | clinical testing | |
Daryl Scott Lab, |
RCV000681466 | SCV000808914 | pathogenic | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | 2017-09-12 | criteria provided, single submitter | clinical testing |