Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratoire de Génétique Moléculaire Institut de Recherche Necker Enfants Malades, |
RCV000782167 | SCV000920631 | pathogenic | Intellectual disability | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV000990311 | SCV001141248 | likely pathogenic | Developmental and epileptic encephalopathy, 26 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Diagnostic Laboratory, |
RCV000782167 | SCV001434539 | pathogenic | Intellectual disability | 2020-04-20 | criteria provided, single submitter | clinical testing |