Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215061 | SCV001386782 | likely benign | Idiopathic generalized epilepsy | 2022-01-14 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003953585 | SCV004781184 | likely benign | GABRD-related condition | 2024-01-11 | 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). |