Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000518493 | SCV000612490 | benign | not specified | 2017-05-12 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000549738 | SCV000652247 | benign | Neonatal-onset encephalopathy with rigidity and seizures | 2025-02-04 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV000518493 | SCV005087812 | benign | not specified | 2024-07-15 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 35% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy and Progressive Myoclonus Epilepsy. Number of patients: 33. Only high quality variants are reported. |