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 |
|---|---|---|---|---|---|
| 6 | 7 | 91 | 81 | 13 | 192 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RPS7 | 6 | 7 | 89 | 81 | 13 | 190 |
| ADI1, COLEC11, RNASEH1, RPS7, TRAPPC12 | 0 | 0 | 1 | 0 | 0 | 1 |
| ADI1, RNASEH1, RPS7, TRAPPC12 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 2 | 3 | 63 | 79 | 8 | 155 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 20 | 6 | 0 | 26 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 6 | 2 | 6 | 14 |
| Revvity Omics, Revvity | 0 | 0 | 10 | 0 | 0 | 10 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 1 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 2 | 0 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 1 | 0 | 0 | 0 | 2 |
| Clinical Genomics Laboratory, Stanford Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| GeneReviews | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Research Group Niklas Dahl, Uppsala University | 0 | 1 | 0 | 0 | 0 | 1 |