Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Biochemical Molecular Genetic Laboratory, |
RCV000984982 | SCV001132906 | likely pathogenic | Arthrogryposis, distal, with impaired proprioception and touch | 2019-08-25 | no assertion criteria provided | clinical testing |