Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001522901 | SCV001732532 | benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003424387 | SCV004158975 | likely benign | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BS1 |