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 |
|---|---|---|---|---|---|
| 4 | 1 | 9 | 0 | 0 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| MARS1 | 4 | 1 | 8 | 13 |
| POLG | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 2 | 2 |
| Paris Brain Institute, Inserm - ICM | 2 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 0 | 1 | 1 |
| Care4Rare-SOLVE, CHEO | 0 | 0 | 1 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 0 | 1 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 0 | 1 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 0 | 1 | 1 |