Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Demoulin lab, |
RCV001249587 | SCV001423556 | pathogenic | Infantile myofibromatosis | 2018-08-10 | criteria provided, single submitter | research | The mutation strongly activates PDGFRB signaling in in vitro assays (gain of function). |