Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626847 | SCV000747550 | pathogenic | Foot dorsiflexor weakness; Peroneal muscle atrophy; Distal lower limb muscle weakness; Absent muscle fiber dysferlin | 2017-01-01 | criteria provided, single submitter | clinical testing |