Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000415021 | SCV000492616 | likely pathogenic | Respiratory distress; Muscle weakness | 2016-01-18 | no assertion criteria provided | clinical testing |