Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703746 | SCV000523016 | likely benign | not provided | 2021-01-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000862968 | SCV001003549 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270262 | SCV002555337 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270263 | SCV002555338 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003912676 | SCV004729084 | likely benign | KCNT1-related condition | 2019-05-03 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |