Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000938835 | SCV001084659 | likely benign | Progressive myoclonic epilepsy | 2023-05-22 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942949 | SCV004761329 | likely benign | CSTB-related condition | 2019-02-22 | 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). |