Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001258322 | SCV001250718 | likely pathogenic | Seizure | 2020-04-20 | criteria provided, single submitter | clinical testing | Duplication of exons 24 to 26 absent from public databases. Positive Genotype/phenotype correlation within the family. |