Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000875685 | SCV001018145 | likely benign | Congenital myasthenic syndrome 8 | 2023-11-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003938363 | SCV004749581 | benign | AGRN-related condition | 2020-03-25 | criteria provided, single submitter | clinical testing | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |