Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000425545 | SCV000528672 | likely benign | not specified | 2018-01-09 | 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 |
RCV000727624 | SCV000854891 | uncertain significance | not provided | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001521448 | SCV001730796 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001808818 | SCV002056595 | benign | Developmental and epileptic encephalopathy, 5 | 2021-07-15 | criteria provided, single submitter | clinical testing |