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 | not provided | total |
|---|---|---|---|---|---|---|
| 5 | 3 | 8 | 1 | 1 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| DNA2 | 5 | 3 | 8 | 1 | 1 | 1 | 18 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 0 | 1 | 1 |