Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001082853 | SCV000652253 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2025-01-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000553702 | SCV001143172 | benign | not provided | 2018-08-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000553702 | SCV001790525 | likely benign | not provided | 2020-10-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000553702 | SCV004032721 | likely benign | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | BRAT1: BP4, BP7 |
Prevention |
RCV004538060 | SCV004711273 | benign | BRAT1-related disorder | 2019-06-13 | no assertion criteria provided | 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). |