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 |
|---|---|---|---|---|---|
| 18 | 4 | 81 | 5 | 18 | 126 |
Gene and significance breakdown #
Total genes and gene combinations: 15
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ENAM | 1 | 0 | 77 | 5 | 15 | 98 |
| WDR72 | 4 | 1 | 0 | 0 | 0 | 5 |
| ACP4 | 0 | 0 | 4 | 0 | 0 | 4 |
| GPR68 | 4 | 0 | 0 | 0 | 0 | 4 |
| COL17A1 | 3 | 0 | 0 | 0 | 0 | 3 |
| KLK4 | 2 | 0 | 0 | 0 | 0 | 2 |
| RELT | 0 | 2 | 0 | 0 | 0 | 2 |
| AMELX, ARHGAP6 | 1 | 0 | 0 | 0 | 0 | 1 |
| BNC2 | 0 | 0 | 0 | 0 | 1 | 1 |
| CHCHD2 | 0 | 0 | 0 | 0 | 1 | 1 |
| LAMB3 | 1 | 0 | 0 | 0 | 0 | 1 |
| LTBP3 | 0 | 1 | 0 | 0 | 0 | 1 |
| PSPH | 0 | 0 | 0 | 0 | 1 | 1 |
| SLC24A4 | 1 | 0 | 0 | 0 | 0 | 1 |
| SP6 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 77 | 5 | 15 | 97 |
| Dental Genetics Laboratory, Seoul National University School of Dentistry | 13 | 0 | 4 | 0 | 0 | 17 |
| Institute of Human Genetics, University of Ulm | 0 | 0 | 0 | 0 | 3 | 3 |
| Leeds Amelogenesis Imperfecta Research Group, University of Leeds | 3 | 0 | 0 | 0 | 0 | 3 |
| Department Of Pediatric Dentistry, Peking University School And Hospital Of Stomatology | 1 | 2 | 0 | 0 | 0 | 3 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| The Fourth Military Medical University, School of Stomatology | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomics and Human Genetics Laboratory, Pasteur Institut of Morocco | 0 | 1 | 0 | 0 | 0 | 1 |