Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085088 | SCV000563655 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000726959 | SCV000704451 | uncertain significance | not provided | 2017-01-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000726959 | SCV000731147 | likely benign | not provided | 2020-02-24 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000726959 | SCV004158991 | likely benign | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7 |