Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128312 | SCV000171904 | benign | not specified | 2013-04-03 | 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 | RCV000471097 | SCV000558516 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002492491 | SCV002798164 | likely benign | Developmental and epileptic encephalopathy, 4 | 2022-04-13 | criteria provided, single submitter | clinical testing | |
Genome Diagnostics Laboratory, |
RCV001701613 | SCV001931373 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701613 | SCV001971326 | likely benign | not provided | no assertion criteria provided | clinical testing |