Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000538741 | SCV001371101 | likely benign | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7 |
Invitae | RCV001449157 | SCV001652265 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-12-18 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270662 | SCV002553727 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270663 | SCV002553728 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing |