Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV002246234 | SCV002516588 | pathogenic | Developmental and epileptic encephalopathy, 26 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, |
RCV001249556 | SCV001423131 | likely pathogenic | Early infantile epileptic encephalopathy with suppression bursts | 2019-12-01 | no assertion criteria provided | clinical testing |