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 | 12 | 14 | 0 | 5 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| TULP1 | 15 | 12 | 13 | 5 | 42 |
| PRPF8 | 0 | 0 | 1 | 0 | 1 |
| TEAD3, TULP1 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| 3billion | 4 | 4 | 6 | 0 | 14 |
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 1 | 5 | 3 | 0 | 9 |
| Genome-Nilou Lab | 0 | 0 | 0 | 5 | 5 |
| Genomics England Pilot Project, Genomics England | 2 | 1 | 0 | 0 | 3 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 1 | 0 | 2 |
| CGC Genetics, Unilabs | 0 | 0 | 1 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 1 |
| SingHealth Duke-NUS Institute of Precision Medicine | 1 | 0 | 0 | 0 | 1 |
| Medical Genetics Lab, Policlinico S. Orsola.Malpighi | 0 | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 1 |