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 |
|---|---|---|---|---|---|
| 29 | 17 | 6 | 23 | 0 | 75 |
Gene and significance breakdown #
Total genes and gene combinations: 27
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| GUCA1A, GUCA1B | 0 | 0 | 0 | 17 | 17 |
| ABCA4 | 7 | 2 | 1 | 0 | 10 |
| CNGA3 | 2 | 3 | 0 | 0 | 5 |
| GUCA1A, GUCA1ANB-GUCA1A, GUCA1B | 0 | 0 | 0 | 5 | 5 |
| GUCY2D | 2 | 2 | 0 | 0 | 4 |
| KCNV2 | 4 | 0 | 0 | 0 | 4 |
| BBS5 | 0 | 2 | 0 | 1 | 3 |
| PDE6C | 0 | 2 | 1 | 0 | 3 |
| ABHD12 | 1 | 0 | 1 | 0 | 2 |
| CRB1 | 2 | 0 | 0 | 0 | 2 |
| PRPH2 | 2 | 0 | 0 | 0 | 2 |
| RPGR | 2 | 0 | 0 | 0 | 2 |
| RPGRIP1 | 2 | 0 | 0 | 0 | 2 |
| WDR19 | 1 | 0 | 1 | 0 | 2 |
| ABCA4, LOC126805793 | 0 | 1 | 0 | 0 | 1 |
| CABP4 | 0 | 1 | 0 | 0 | 1 |
| CACNA2D4 | 0 | 1 | 0 | 0 | 1 |
| CDHR1 | 0 | 0 | 1 | 0 | 1 |
| CFAP410 | 0 | 1 | 0 | 0 | 1 |
| GNAT2 | 1 | 0 | 0 | 0 | 1 |
| GNAT2, LOC129388577 | 1 | 0 | 0 | 0 | 1 |
| LOC126806305, LOC126806306, LOC129934555, LOC129934556, MALL, MTLN, NPHP1 | 0 | 1 | 0 | 0 | 1 |
| NMNAT1 | 0 | 1 | 0 | 0 | 1 |
| PITPNM3 | 1 | 0 | 0 | 0 | 1 |
| RAB28 | 0 | 1 | 0 | 0 | 1 |
| RGR | 0 | 0 | 1 | 0 | 1 |
| SAG | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 0 | 22 | 22 |
| Molecular Genetics Laboratory, Institute for Ophthalmic Research | 16 | 0 | 0 | 0 | 16 |
| NIHR Bioresource Rare Diseases, University of Cambridge | 1 | 11 | 0 | 1 | 13 |
| Ophthalmic Genetics Group, Institute of Molecular and Clinical Ophthalmology Basel | 4 | 1 | 1 | 0 | 6 |
| Lab De Baere, Eye and Developmental Genetics Lab, Ghent University | 2 | 2 | 1 | 0 | 5 |
| Sharon lab, Hadassah-Hebrew University Medical Center | 3 | 1 | 0 | 0 | 4 |
| Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ | 2 | 0 | 1 | 0 | 3 |
| DBGen Ocular Genomics | 1 | 1 | 1 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 2 | 0 | 2 |
| Eye Genetics Research Group, Children's Medical Research Institute | 0 | 1 | 0 | 0 | 1 |