Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531345 | SCV000656221 | benign | Familial temporal lobe epilepsy 8 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935547 | SCV004756119 | likely benign | GAL-related condition | 2019-03-21 | 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). |