Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000233569 | SCV000291483 | benign | Idiopathic generalized epilepsy | 2024-01-29 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000518251 | SCV000614857 | benign | not specified | 2017-07-12 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003977691 | SCV004788561 | benign | RBFOX1-related condition | 2019-05-29 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |