Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000439776 | SCV000524875 | likely benign | not specified | 2016-03-10 | 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- |
RCV001808814 | SCV002056679 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062688 | SCV002437032 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Ce |
RCV003457680 | SCV004184827 | likely benign | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | SPTAN1: BP4, BP7, BS1 |