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 | not provided | total |
|---|---|---|---|---|---|---|
| 4 | 8 | 25 | 7 | 7 | 5 | 50 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| PRPS1 | 4 | 8 | 25 | 7 | 7 | 5 | 50 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 15 | 1 | 7 | 0 | 23 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 6 | 6 | 0 | 0 | 12 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 5 | 5 |
| Baylor Genetics | 0 | 2 | 2 | 0 | 0 | 0 | 4 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Rehabilitation, Anhui Provincial Children's Hospital | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Genomics England Pilot Project, Genomics England | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Kariminejad - Najmabadi Pathology & Genetics Center | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 0 | 1 |