Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186665 | SCV000171827 | benign | not specified | 2014-01-30 | 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. |
Eurofins Ntd Llc |
RCV000724563 | SCV000226247 | uncertain significance | not provided | 2015-02-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079430 | SCV001007908 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-19 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808359 | SCV002056541 | likely benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |