Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000434032 | SCV000526217 | likely benign | not specified | 2016-04-05 | 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. |
Ce |
RCV000513257 | SCV000609366 | likely benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | KCNT1: BP4, BS2 |
Invitae | RCV001087634 | SCV000652906 | likely benign | Developmental and epileptic encephalopathy, 14; Autosomal dominant nocturnal frontal lobe epilepsy 5 | 2023-11-27 | criteria provided, single submitter | clinical testing |