Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Génétique des Maladies du Développement, |
RCV001391231 | SCV001593153 | likely pathogenic | Seizures, benign familial neonatal, 1 | 2021-07-16 | no assertion criteria provided | clinical testing | We have found this variant in two unrelated patients with BFNE. |