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 |
|---|---|---|---|---|---|
| 16 | 7 | 5 | 2 | 1 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CEP78 | 11 | 4 | 5 | 1 | 1 | 22 |
| CEP250 | 5 | 3 | 0 | 1 | 0 | 6 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 14 | 0 | 0 | 0 | 0 | 14 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 2 | 1 | 5 |
| SIB Swiss Institute of Bioinformatics | 2 | 3 | 0 | 0 | 0 | 5 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 0 | 2 | 0 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| NIHR Bioresource Rare Diseases, University of Cambridge | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 0 | 1 | 0 | 0 | 0 | 1 |