Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000427310 | SCV000514574 | benign | not specified | 2015-09-18 | 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. |
Ce |
RCV000994924 | SCV001148746 | likely benign | not provided | 2022-12-01 | criteria provided, single submitter | clinical testing | SCN8A: BP4, BP7 |
Labcorp Genetics |
RCV001423267 | SCV001625841 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-07-07 | criteria provided, single submitter | clinical testing |