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 |
|---|---|---|---|---|---|
| 2 | 0 | 4 | 0 | 2 | 8 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| ATXN7 | 1 | 3 | 1 | 5 |
| ATXN7, LOC108660406, LOC129936979 | 1 | 1 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|
| OMIM | 1 | 0 | 1 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 2 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 1 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 1 | 0 | 0 | 1 |
| O&I group, Department of Genetics, University Medical Center of Groningen | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University Hospital Muenster | 0 | 1 | 0 | 1 |