Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001194674 | SCV001364286 | likely pathogenic | Severe myoclonic epilepsy in infancy | criteria provided, single submitter | clinical testing | ||
Institute of Human Genetics, |
RCV001194674 | SCV001429396 | uncertain significance | Severe myoclonic epilepsy in infancy | 2019-05-08 | criteria provided, single submitter | clinical testing |