Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731100 | SCV000858876 | uncertain significance | not provided | 2018-01-16 | criteria provided, single submitter | clinical testing | |
Clinical Molecular Genetics Laboratory, |
RCV000782284 | SCV000920771 | uncertain significance | Developmental and epileptic encephalopathy, 14 | 2019-05-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001089034 | SCV001005714 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-09-09 | criteria provided, single submitter | clinical testing |