Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001085356 | SCV000653932 | likely benign | Congenital myasthenic syndrome 8 | 2024-01-26 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000842499 | SCV000984522 | likely benign | not provided | 2020-11-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000842499 | SCV004126881 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | AGRN: BP4, BP7 |
Prevention |
RCV003945305 | SCV004762205 | likely benign | AGRN-related condition | 2019-11-07 | 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). |