Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV002292456 | SCV002585893 | pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | KCNQ2: PS3, PM2, PS4:Moderate, PP2, PP3, PP4 |
OMIM | RCV000007813 | SCV000028015 | pathogenic | Seizures, benign familial neonatal, 1 | 2004-07-13 | no assertion criteria provided | literature only | |
Gene |
RCV000678105 | SCV000041747 | pathogenic | Seizures, benign familial neonatal, 2 | 2016-03-31 | no assertion criteria provided | literature only | Uncertain severity. 2/4 therapy-resistant seizures and intellectual disability. |
OMIM | RCV001260874 | SCV001437970 | pathogenic | Developmental and epileptic encephalopathy, 7 | 2004-07-13 | no assertion criteria provided | literature only |