Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Xenon Pharmaceuticals, |
RCV000656132 | SCV000611128 | pathogenic | Paroxysmal extreme pain disorder | 2014-01-01 | no assertion criteria provided | clinical testing | Variant is also found in another patient with the same disease published by Fertlemen et al 2006 (DOI 10.1016/j.neuron.2006.10.006). |