If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| 5 | 3 | 3 | 0 | 0 | 1 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| EIF5A | 4 | 3 | 2 | 1 | 9 |
| ACADVL, ASGR1, ASGR2, CLDN7, CTDNEP1, DLG4, DVL2, EIF5A, ELP5, GABARAP, GPS2, NEURL4, PHF23, SLC2A4, YBX2 | 1 | 0 | 0 | 0 | 1 |
| EIF5A, GPS2, NEURL4 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 1 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 1 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 1 | 0 | 0 | 0 | 1 |
| Ege University Pediatric Genetics, Ege University | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |