Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001086188 | SCV001121628 | likely benign | Idiopathic generalized epilepsy | 2023-12-08 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000973843 | SCV001143979 | likely benign | not provided | 2018-10-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003972956 | SCV004787461 | likely benign | GABRD-related condition | 2022-09-07 | 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). |