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 |
|---|---|---|---|---|---|
| 11 | 4 | 12 | 0 | 2 | 26 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| NUBPL | 10 | 4 | 12 | 2 | 25 |
| DTD2, GPR33, HEATR5A, NUBPL | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 9 |
| Revvity Omics, Revvity | 1 | 1 | 4 | 0 | 6 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 1 | 0 | 0 | 3 |
| Undiagnosed Diseases Network, NIH | 0 | 0 | 3 | 0 | 3 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 2 | 1 | 0 | 3 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 2 | 0 | 2 |
| Zeviani Lab, University of Cambridge | 2 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 2 |
| Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 1 |