Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626761 | SCV000747464 | uncertain significance | Muscle weakness; Arthralgia; Myalgia; EMG: myopathic abnormalities | 2017-01-01 | criteria provided, single submitter | clinical testing |