Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV001004072 | SCV001162795 | pathogenic | Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 2017-09-08 | criteria provided, single submitter | clinical testing |