Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001095640 | SCV001250624 | likely pathogenic | Severe myoclonic epilepsy in infancy | criteria provided, single submitter | clinical testing |