Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004686 | SCV001164143 | pathogenic | Developmental and epileptic encephalopathy, 9 | 2017-10-05 | criteria provided, single submitter | clinical testing |