Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000124869 | SCV000168308 | benign | not specified | 2014-04-02 | 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. |
Illumina Laboratory Services, |
RCV000352498 | SCV000464155 | uncertain significance | Juvenile myoclonic epilepsy | 2016-06-14 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003764856 | SCV000562691 | benign | Absence seizure; Myoclonic epilepsy, juvenile, susceptibility to, 1 | 2023-07-17 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000124869 | SCV000613246 | benign | not specified | 2017-04-28 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000124869 | SCV000855536 | likely benign | not specified | 2017-07-31 | criteria provided, single submitter | clinical testing |