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 | 7 | 5 | 0 | 6 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| CACNA1F | 4 | 5 | 5 | 6 | 20 |
| CABP4 | 0 | 1 | 0 | 0 | 1 |
| PHKA2 | 1 | 0 | 0 | 0 | 1 |
| WHRN | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 1 | 3 | 1 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 5 | 5 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 1 |
| Genomics, Clalit Research Institute, Clalit Health Care | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 1 |