Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000529757 | SCV000632039 | likely benign | Idiopathic generalized epilepsy | 2023-12-20 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003960277 | SCV004769553 | likely benign | GABRD-related condition | 2022-09-14 | 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). |
Centre de Biologie Pathologie Génétique, |
RCV001251987 | SCV001427733 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |