Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000984971 | SCV001132893 | likely pathogenic | Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | 2019-08-25 | no assertion criteria provided | clinical testing |