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 |
|---|---|---|---|---|---|
| 12 | 2 | 4 | 0 | 0 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| UBAP1 | 12 | 2 | 4 | 16 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 8 |
| Revvity Omics, Revvity | 1 | 0 | 3 | 4 |
| The William Harvey Research Institute, Queen Mary University | 3 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 0 | 1 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 1 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 1 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 1 | 0 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 0 | 1 | 0 | 1 |
| Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) | 1 | 0 | 0 | 1 |