Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, |
RCV001250395 | SCV001424746 | pathogenic | Combined oxidative phosphorylation defect type 14 | 2019-12-12 | no assertion criteria provided | clinical testing |