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 | not provided | total |
|---|---|---|---|---|---|---|
| 4 | 2 | 5 | 1 | 0 | 1 | 13 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| FOXJ1 | 4 | 1 | 3 | 1 | 1 | 10 |
| FOXJ1, LOC130061707 | 0 | 1 | 1 | 0 | 0 | 2 |
| FOXJ1, LOC130061708 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 1 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| ClinVar Staff, National Center for Biotechnology Information (NCBI) | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Yale Center for Mendelian Genomics, Yale University | 1 | 0 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 0 | 1 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Centre, Carl Von Ossietzky University Oldenburg | 0 | 1 | 0 | 0 | 0 | 1 |