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 |
|---|---|---|---|---|---|
| 8 | 5 | 8 | 0 | 2 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| NDUFS8 | 8 | 5 | 8 | 2 | 22 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 7 | 0 | 0 | 0 | 7 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 1 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 1 | 0 | 2 |
| Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics | 0 | 1 | 1 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, | 0 | 0 | 1 | 0 | 1 |