Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000444010 | SCV000511253 | likely benign | not provided | 2016-09-12 | criteria provided, single submitter | clinical testing | Converted during submission to Likely benign. |
Invitae | RCV001082821 | SCV000652284 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000444010 | SCV001143178 | likely benign | not provided | 2018-11-14 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000444010 | SCV001155003 | likely benign | not provided | 2023-10-01 | criteria provided, single submitter | clinical testing | BRAT1: BP4, BS2 |
Gene |
RCV000444010 | SCV001836971 | benign | not provided | 2020-09-23 | criteria provided, single submitter | clinical testing | This variant is associated with the following publications: (PMID: 29375859) |
Fulgent Genetics, |
RCV002502461 | SCV002808863 | likely benign | Neonatal-onset encephalopathy with rigidity and seizures; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | 2022-04-01 | criteria provided, single submitter | clinical testing |