Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001080553 | SCV000771969 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2025-01-12 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV005000458 | SCV001143169 | benign | not specified | 2024-09-16 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000650132 | SCV001154999 | likely benign | not provided | 2024-12-01 | criteria provided, single submitter | clinical testing | BRAT1: BP4, BS2 |
Gene |
RCV000650132 | SCV001867782 | benign | not provided | 2018-09-10 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV004533400 | SCV004720835 | likely benign | BRAT1-related disorder | 2019-11-13 | no assertion criteria provided | 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). |