Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Genetics Laboratory, |
RCV001374639 | SCV001571557 | likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities | 2020-04-17 | no assertion criteria provided | clinical testing |