Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000576290 | SCV000677101 | benign | Congenital myasthenic syndrome 8 | 2023-12-09 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001553238 | SCV001774068 | likely benign | not provided | 2020-12-10 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001553238 | SCV004126882 | likely benign | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | AGRN: BP4, BP7 |
Prevention |
RCV003952926 | SCV004771233 | benign | AGRN-related condition | 2024-01-30 | 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). |