Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000187849 | SCV000241449 | pathogenic | not provided | 2014-07-29 | criteria provided, single submitter | clinical testing | c.297-2 A>G: IVS1-2 A>G in intron 1 of the KCNQ2 gene (NM_172107.2)The c.297-2 A>G splice site mutation in the KCNQ2 gene has been previously reported in a family with benign familial neonatal-infantile seizures (Zara et al., 2013). This mutation destroys the canonical splice acceptor site in intron 1 and is expected to cause abnormal gene splicing. The variant is found in INFANT-EPI panel(s). |
Gene |
RCV000678114 | SCV000484549 | not provided | Seizures, benign familial neonatal, 1 | no assertion provided | literature only | BFNIS (benign familial neonatal-infantile seizures) |