Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001281084 | SCV001451434 | pathogenic | Seizure | 2020-12-21 | criteria provided, single submitter | clinical testing | Truncating variant absent from gnomAD. |