Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000686226 | SCV000813735 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-22 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710744 | SCV000841042 | uncertain significance | not provided | 2017-11-13 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710744 | SCV001779162 | likely benign | not provided | 2020-08-20 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000710744 | SCV003828539 | uncertain significance | not provided | 2020-12-18 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003907945 | SCV004722100 | likely benign | BRAT1-related condition | 2023-06-06 | 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). |