Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Pediatric Genomic Medicine, |
RCV000514442 | SCV000610681 | uncertain significance | not provided | 2017-04-10 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001083768 | SCV000652259 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2025-02-03 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000514442 | SCV000841047 | benign | not provided | 2018-07-13 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000514442 | SCV001154997 | likely benign | not provided | 2025-05-01 | criteria provided, single submitter | clinical testing | BRAT1: BP4, BS2 |
Gene |
RCV000514442 | SCV001835877 | benign | not provided | 2018-10-15 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV000514442 | SCV005875977 | likely benign | not provided | 2024-09-24 | criteria provided, single submitter | clinical testing | |
Centre de Biologie Pathologie Génétique, |
RCV001251688 | SCV001427428 | likely benign | Intellectual disability | 2019-01-01 | no assertion criteria provided | clinical testing |