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 |
|---|---|---|---|---|---|
| 10 | 7 | 48 | 1 | 6 | 70 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MMP20 | 10 | 7 | 48 | 1 | 6 | 70 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 1 | 45 | 1 | 6 | 53 |
| Leeds Amelogenesis Imperfecta Research Group, University of Leeds | 4 | 0 | 0 | 0 | 0 | 4 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Reference Center For Rare Oral And Dental Diseases, Crmr O-rares, Hôpitaux Universitaires De Strasbourg | 0 | 3 | 1 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 1 | 1 | 1 | 0 | 0 | 3 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 3 | 0 | 0 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 0 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 0 | 1 |
| Variantyx, Inc. | 1 | 0 | 0 | 0 | 0 | 1 |
| Wang Lab, School of Dentistry, National Taiwan University | 1 | 0 | 0 | 0 | 0 | 1 |