Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514234 | SCV000610427 | likely benign | not provided | 2017-08-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001079622 | SCV000652215 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-02-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000514234 | SCV001949546 | benign | not provided | 2019-07-24 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003942676 | SCV004771663 | benign | BRAT1-related condition | 2021-06-30 | 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). |