Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000873325 | SCV001015296 | likely benign | Congenital myasthenic syndrome 8 | 2023-12-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003908296 | SCV004725392 | likely benign | AGRN-related condition | 2019-06-19 | 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). |