Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003492081 | SCV001718070 | benign | Myoclonic-atonic epilepsy | 2023-05-13 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV003444560 | SCV002506738 | uncertain significance | Myoclonic-astatic epilepsy | 2021-07-09 | criteria provided, single submitter | clinical testing | |
Mendelics | RCV002248734 | SCV002519377 | uncertain significance | not specified | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003492081 | SCV003821455 | uncertain significance | Myoclonic-atonic epilepsy | 2021-04-02 | criteria provided, single submitter | clinical testing | |
Bioinformatics Core, |
RCV000655989 | SCV000588265 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |