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 |
|---|---|---|---|---|---|
| 33 | 7 | 75 | 12 | 26 | 153 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PITX2 | 22 | 6 | 45 | 10 | 24 | 107 |
| FOXC1 | 9 | 1 | 29 | 2 | 1 | 42 |
| FOXC1, LOC129995601 | 1 | 0 | 1 | 0 | 0 | 2 |
| FOXC1, FOXF2, FOXQ1, GMDS | 1 | 0 | 0 | 0 | 0 | 1 |
| FOXC1, LOC129995600 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 36 | 0 | 20 | 56 |
| Invitae | 20 | 5 | 9 | 10 | 8 | 52 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 25 | 2 | 0 | 27 |
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| 3billion | 0 | 0 | 3 | 0 | 0 | 3 |
| Institute of Medical Molecular Genetics, University of Zurich | 1 | 0 | 1 | 0 | 0 | 2 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics Department, University Hospital of Toulouse | 0 | 1 | 0 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 0 | 0 | 0 | 0 | 1 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |