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 | risk factor | not provided | total |
|---|---|---|---|---|---|---|---|
| 3 | 2 | 6 | 3 | 0 | 4 | 1 | 19 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | not provided | total |
|---|---|---|---|---|---|---|---|
| SMAD6 | 3 | 2 | 6 | 3 | 3 | 1 | 18 |
| BMP2 | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | not provided | total |
|---|---|---|---|---|---|---|---|
| OMIM | 0 | 0 | 0 | 0 | 4 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 3 | 0 | 0 | 4 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 2 | 0 | 0 | 0 | 3 |
| Centre of Medical Genetics, University of Antwerp | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect - Invitae Patient Insights Network | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Medizinische Genetik Mainz, Limbach Genetics GmbH | 0 | 0 | 1 | 0 | 0 | 0 | 1 |