Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001456498 | SCV001660282 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587421 | SCV001814476 | likely benign | not provided | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003955999 | SCV004774958 | likely benign | BRAT1-related condition | 2019-07-12 | 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). |