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 |
|---|---|---|---|---|---|
| 11 | 7 | 17 | 0 | 3 | 38 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| TMEM67 | 7 | 5 | 6 | 2 | 20 |
| CC2D2A | 3 | 2 | 6 | 1 | 12 |
| RPGRIP1L | 1 | 0 | 5 | 0 | 6 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 1 | 1 | 15 | 0 | 17 |
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 2 | 1 | 1 | 0 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 3 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Genomics England Pilot Project, Genomics England | 2 | 0 | 0 | 0 | 2 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 2 | 0 | 0 | 2 |
| TIDEX, University of British Columbia | 2 | 0 | 0 | 0 | 2 |
| University of Iowa Renal Genetics Clinic, University of Iowa | 0 | 2 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 0 | 1 | 1 |