Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004720 | SCV001164187 | likely pathogenic | Developmental and epileptic encephalopathy, 8 | 2018-03-20 | criteria provided, single submitter | clinical testing |