Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001572682 | SCV001865575 | benign | not provided | 2019-08-13 | criteria provided, single submitter | clinical testing | |
Unidad de Genómica Garrahan, |
RCV001701198 | SCV005091826 | benign | not specified | 2024-07-31 | criteria provided, single submitter | clinical testing | This variant is classified as Benign based on local population frequency. This variant was detected in 20% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 19. Only high quality variants are reported. |
Laboratory of Diagnostic Genome Analysis, |
RCV001572682 | SCV001797429 | likely benign | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics, |
RCV001701198 | SCV001925529 | benign | not specified | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001701198 | SCV001980573 | benign | not specified | no assertion criteria provided | clinical testing |