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 |
|---|---|---|---|---|---|
| 8 | 7 | 8 | 3 | 0 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CEP135 | 8 | 7 | 8 | 3 | 24 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 4 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 3 | 1 | 0 | 4 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 0 | 2 | 0 | 2 | 4 |
| Institut de Recherche Interdisciplinaire en Biologie Humaine et Moleculaire, Universite Libre de Bruxelles | 0 | 0 | 3 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| 3billion | 1 | 1 | 0 | 0 | 2 |
| Genetics, Fernandez Hospital, Fernandez Foundation | 2 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 0 | 1 | 1 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 1 | 0 | 0 | 0 | 1 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 1 | 0 | 0 | 0 | 1 |
| Pathology and Clinical Laboratory Medicine, King Fahad Medical City | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 0 | 1 |
| Igenomix - Part of Vitrolife Group, Igenomix | 0 | 1 | 0 | 0 | 1 |