Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Bioinformatics Core, |
RCV000656019 | SCV000588295 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |
Gene |
RCV001814169 | SCV002061342 | not provided | Seizures, benign familial neonatal, 2 | no assertion provided | literature only | Variant occurred in 2 sibs with rolandic epilepsy (no neonatal seizures), but was also present in their unaffected mother; a very rare allele, absent in the gnomad database of 250K alleles. |