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 |
|---|---|---|---|---|---|
| 11 | 8 | 5 | 0 | 6 | 26 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| POLG, POLGARF | 11 | 8 | 5 | 5 | 25 |
| FANCI, POLG, POLGARF | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 8 |
| MGZ Medical Genetics Center | 2 | 2 | 1 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 5 | 5 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 4 | 0 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 1 | 2 | 0 | 3 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 1 | 1 | 0 | 3 |
| 3billion | 0 | 3 | 0 | 0 | 3 |
| Centogene AG - the Rare Disease Company | 1 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 1 | 0 | 2 |
| UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 2 | 0 | 0 | 0 | 2 |
| Molecular Genetics, Royal Melbourne Hospital | 1 | 0 | 0 | 1 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 0 | 0 | 0 | 1 |
| Columbia University Laboratory of Personalized Genomic Medicine, Columbia University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 1 |