Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003891995 | SCV000317030 | benign | AGRN-related condition | 2022-09-29 | 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). |
Invitae | RCV000534291 | SCV000653896 | benign | Congenital myasthenic syndrome 8 | 2024-01-22 | criteria provided, single submitter | clinical testing |