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 |
|---|---|---|---|---|---|
| 12 | 6 | 8 | 3 | 3 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| NDUFAF6 | 12 | 6 | 8 | 2 | 3 | 27 |
| LOC113788297, NDUFAF6 | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 3 | 1 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 1 | 1 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 3 |
| 3billion | 1 | 0 | 2 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 2 | 0 | 0 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 0 | 0 | 0 | 2 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 1 | 0 | 0 | 0 | 2 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 1 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| Istanbul Faculty of Medicine, Istanbul University | 1 | 0 | 0 | 0 | 0 | 1 |