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 |
|---|---|---|---|---|---|
| 10 | 5 | 8 | 2 | 4 | 28 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| UBR1 | 10 | 5 | 8 | 2 | 3 | 27 |
| LOC130056936, UBR1 | 0 | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 1 | 3 | 0 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 4 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 1 | 1 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 1 | 0 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 1 | 0 | 2 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 1 | 0 | 0 | 2 |
| Provincial Medical Genetics Program of British Columbia, University of British Columbia | 0 | 1 | 1 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 0 | 1 |