Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002539096 | SCV001012579 | likely benign | Congenital myasthenic syndrome 8 | 2023-08-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003965742 | SCV004784726 | likely benign | AGRN-related condition | 2023-04-13 | 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). |