Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centro de Biología Molecular Severo Ochoa, |
RCV001093703 | SCV001245611 | pathogenic | Hyperphenylalaninemia due to DNAJC12 deficiency | 2020-02-12 | no assertion criteria provided | research |