Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000942190 | SCV001088110 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-28 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003978121 | SCV004787058 | likely benign | BRAT1-related condition | 2019-04-01 | 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). |