Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000542537 | SCV000652939 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2024-01-07 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000609638 | SCV000718079 | likely benign | not specified | 2017-04-05 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genome- |
RCV002270650 | SCV002553616 | likely benign | Developmental and epileptic encephalopathy, 14 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV002270651 | SCV002553617 | likely benign | Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2022-03-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003431103 | SCV004158988 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BP7 |