Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516394 | SCV000612296 | uncertain significance | not specified | 2016-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000875965 | SCV001018463 | likely benign | Congenital myasthenic syndrome 8 | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003979922 | SCV004786857 | likely benign | AGRN-related condition | 2020-07-20 | 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). |