Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000431889 | SCV000513390 | benign | not provided | 2019-04-11 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge |
Invitae | RCV001083596 | SCV001004952 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270255 | SCV002553744 | benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270256 | SCV002553745 | benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003932561 | SCV004757764 | likely benign | KCNT1-related condition | 2023-05-22 | 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). |