Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001004755 | SCV001164234 | likely pathogenic | Progressive myoclonic epilepsy type 7 | 2018-10-19 | criteria provided, single submitter | clinical testing |