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 |
|---|---|---|---|---|---|
| 25 | 11 | 136 | 30 | 9 | 211 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CNGB3 | 7 | 2 | 41 | 17 | 4 | 71 |
| PDE6C | 7 | 5 | 46 | 5 | 4 | 67 |
| CNGA3 | 9 | 3 | 36 | 6 | 0 | 54 |
| GNAT2 | 0 | 0 | 12 | 2 | 1 | 15 |
| ATF6 | 1 | 1 | 0 | 0 | 0 | 2 |
| CABP4 | 1 | 0 | 1 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 125 | 30 | 9 | 164 |
| Institute for Ophthalmic Research,University Tuebingen | 14 | 3 | 3 | 0 | 0 | 20 |
| Molecular Genetics Laboratory,Institute for Ophthalmic Research | 7 | 1 | 7 | 0 | 0 | 15 |
| Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet | 3 | 2 | 1 | 0 | 0 | 6 |
| NIHR Bioresource Rare Diseases,University of Cambridge | 1 | 5 | 0 | 0 | 0 | 6 |
| Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine | 4 | 0 | 0 | 0 | 0 | 4 |
| Molecular Diagnostics Laboratory,M Health: University of Minnesota | 1 | 0 | 0 | 0 | 0 | 1 |