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 |
|---|---|---|---|---|---|
| 9 | 7 | 29 | 9 | 5 | 55 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| BAP1 | 8 | 4 | 29 | 9 | 5 | 52 |
| BAP1, PHF7 | 1 | 3 | 0 | 0 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 3 | 0 | 24 | 3 | 0 | 30 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 6 | 5 | 12 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 3 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 0 | 0 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 1 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 1 | 0 | 0 | 2 |
| Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili | 1 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| OLLIN Analises Genomicas, OLLIN | 0 | 0 | 1 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 1 | 0 | 0 | 0 | 1 |