Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Shenzhen Institute of Pediatrics, |
RCV000258814 | SCV000328446 | likely pathogenic | Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 2016-08-08 | criteria provided, single submitter | clinical testing |