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 |
|---|---|---|---|---|---|
| 7 | 9 | 6 | 0 | 1 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| FDXR | 7 | 8 | 6 | 1 | 20 |
| FDXR, LOC112533667 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 1 | 2 | 1 | 0 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 2 | 0 | 3 |
| 3billion | 0 | 2 | 1 | 0 | 3 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 2 | 0 | 0 | 0 | 2 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 1 | 1 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 0 | 1 |
| Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| WangQJ Lab, Chinese People's Liberation Army General Hospital | 0 | 1 | 0 | 0 | 1 |