Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV002248707 | SCV000571963 | likely benign | not provided | 2022-05-17 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Invitae | RCV001505729 | SCV001710637 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270580 | SCV002555366 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270581 | SCV002555367 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV002248707 | SCV003917737 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KCNT1: BS1 |