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 |
|---|---|---|---|---|---|
| 13 | 0 | 105 | 44 | 20 | 172 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| BMP4 | 6 | 83 | 39 | 13 | 131 |
| SUMO1 | 1 | 12 | 2 | 0 | 15 |
| IRF6 | 0 | 4 | 0 | 6 | 10 |
| BMP4, LOC109433677 | 0 | 3 | 1 | 1 | 5 |
| MSX1 | 3 | 1 | 0 | 0 | 4 |
| CDH1 | 0 | 2 | 0 | 0 | 2 |
| DLX4 | 1 | 0 | 1 | 0 | 2 |
| LOC129992137, MSX1 | 1 | 0 | 1 | 0 | 2 |
| BMP4, CDKN3, CGRRF1, CNIH1, GCH1, GMFB, SAMD4A | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Invitae | 3 | 63 | 35 | 11 | 112 |
| Illumina Laboratory Services, Illumina | 0 | 34 | 7 | 3 | 44 |
| Pharmacology and Genetics Laboratory, Bauru School of Dentistry, University of Sao Paulo | 0 | 4 | 0 | 6 | 10 |
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Fulgent Genetics, Fulgent Genetics | 0 | 5 | 4 | 0 | 9 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 2 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 1 | 0 | 0 | 0 | 1 |