Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
OMIM | RCV000722148 | SCV000854565 | pathogenic | Myasthenic syndrome, congenital, 24, presynaptic | 2018-11-29 | no assertion criteria provided | literature only | |
Lupski Lab, |
RCV001007780 | SCV001167464 | uncertain significance | Flexion contracture | no assertion criteria provided | research |