Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124875 | SCV000168315 | benign | not specified | 2013-01-22 | 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 | RCV002498599 | SCV000562693 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000475382 | SCV001143853 | benign | not provided | 2019-03-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV002498599 | SCV002795524 | likely benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2021-11-05 | criteria provided, single submitter | clinical testing |