Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000128228 | SCV000171820 | benign | not specified | 2013-03-26 | 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 | RCV002055817 | SCV002401608 | benign | Early infantile epileptic encephalopathy with suppression bursts | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002505101 | SCV002809618 | likely benign | Developmental and epileptic encephalopathy, 5 | 2022-04-04 | criteria provided, single submitter | clinical testing |