Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000189473 | SCV000243114 | benign | not specified | 2014-09-18 | 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. |
Invitae | RCV000866674 | SCV001007802 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-12-25 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808497 | SCV002056703 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003430738 | SCV004156426 | likely benign | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7 |