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 | risk factor | total |
|---|---|---|---|---|---|---|
| 4 | 0 | 3 | 1 | 0 | 1 | 9 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|
| TBC1D24 | 2 | 0 | 0 | 0 | 2 |
| CSF1R, LOC111188154 | 0 | 1 | 0 | 0 | 1 |
| DCTN1 | 0 | 0 | 1 | 0 | 1 |
| GBA1, LOC106627981 | 0 | 0 | 0 | 1 | 1 |
| GRN | 1 | 0 | 0 | 0 | 1 |
| LOC129933272, PTRHD1 | 1 | 0 | 0 | 0 | 1 |
| MAPT | 0 | 1 | 0 | 0 | 1 |
| PDGFRB | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 1 | 3 |
| Tgen's Center For Rare Childhood Disorders, Translational Genomics Research Institute (TGEN) | 2 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Wuerzburg | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 1 |
| Geriatric Neurology, Shaanxi Provincial People's Hospital | 1 | 0 | 0 | 0 | 1 |