Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Snyder Lab, |
RCV000490800 | SCV000576420 | pathogenic | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | no assertion criteria provided | clinical testing |