Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000938002 | SCV001083797 | likely benign | Severe myoclonic epilepsy in infancy | 2023-12-11 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942945 | SCV004773477 | likely benign | SNX27-related condition | 2020-01-08 | 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). |