Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001080369 | SCV000632064 | likely benign | Idiopathic generalized epilepsy | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710729 | SCV000841027 | likely benign | not provided | 2018-11-01 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003915357 | SCV004731552 | likely benign | RBFOX1-related condition | 2022-07-28 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Bioinformatics Core, |
RCV000656041 | SCV000588317 | pathogenic | Childhood epilepsy with centrotemporal spikes | 2017-01-01 | no assertion criteria provided | case-control | CAADphred>15 |