Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center of Genomic medicine, |
RCV000211481 | SCV000268513 | likely pathogenic | Seizures, benign familial neonatal, 1 | 2016-04-12 | criteria provided, single submitter | clinical testing | This de novo mutation in the KCNQ2 is probably the cause of the neonatal epilepsy observed in the patient. |