Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004739 | SCV001164212 | likely pathogenic | Developmental and epileptic encephalopathy, 42 | 2018-09-21 | criteria provided, single submitter | clinical testing |