Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001082421 | SCV000652232 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-27 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000710742 | SCV000841040 | uncertain significance | not provided | 2017-11-28 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000710742 | SCV001805412 | likely benign | not provided | 2021-05-28 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000710742 | SCV002545488 | likely benign | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing | BRAT1: BP4 |
Revvity Omics, |
RCV000710742 | SCV003828543 | uncertain significance | not provided | 2022-03-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003935499 | SCV004749778 | likely benign | BRAT1-related condition | 2021-02-05 | 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). |
Centre de Biologie Pathologie Génétique, |
RCV001251685 | SCV001427425 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |