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 | total |
|---|---|---|---|---|---|
| 5 | 9 | 12 | 4 | 1 | 30 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 2 | 5 | 5 | 3 | 1 | 16 |
| Faundes-Banka syndrome | 4 | 3 | 2 | 0 | 0 | 8 |
| not specified | 0 | 1 | 4 | 1 | 0 | 6 |
| EIF5A-related disorder | 0 | 0 | 2 | 0 | 0 | 2 |
| Neurodevelopmental disorder | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GeneDx | 2 | 4 | 5 | 1 | 1 | 13 |
| Ambry Genetics | 0 | 1 | 4 | 0 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 0 | 3 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 2 | 0 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 0 | 0 | 1 |
| Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 1 | 0 | 0 | 0 | 0 | 1 |