Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415166 | SCV000493017 | likely pathogenic | Muscle weakness; Ptosis; Dyspnea; Breathing dysregulation | 2014-06-03 | criteria provided, single submitter | clinical testing |