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 |
|---|---|---|---|---|---|
| 9 | 2 | 5 | 1 | 0 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| LOC106029312, NCF1 | 9 | 2 | 5 | 1 | 16 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 7 | 0 | 0 | 0 | 7 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 2 | 0 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 2 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 1 | 1 | 0 | 2 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 2 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 1 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| GeneReviews | 1 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 1 |
| Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University | 1 | 0 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 1 | 0 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases, Istituto Giannina Gaslini | 0 | 0 | 0 | 1 | 1 |
| 3billion, Medical Genetics | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 0 | 1 |