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 |
|---|---|---|---|---|---|
| 149 | 70 | 502 | 64 | 10 | 768 |
Gene and significance breakdown #
Total genes and gene combinations: 4
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 139 | 47 | 471 | 30 | 1 | 688 |
| ClinGen TP53 Variant Curation Expert Panel,ClinGen | 14 | 9 | 5 | 9 | 6 | 43 |
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 19 | 19 | 3 | 41 |
| Mendelics | 9 | 4 | 16 | 0 | 0 | 29 |
| Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine | 10 | 8 | 0 | 0 | 0 | 18 |
| Integrated Genetics/Laboratory Corporation of America | 5 | 3 | 0 | 0 | 0 | 8 |
| Genetic Services Laboratory, University of Chicago | 2 | 3 | 0 | 0 | 0 | 5 |
| CSER _CC_NCGL, University of Washington | 1 | 0 | 1 | 3 | 0 | 5 |
| University of Washington Department of Laboratory Medicine,University of Washington | 1 | 0 | 0 | 3 | 0 | 4 |
| Genomics Laboratory,Virgen de la Arrixaca University Clinical Hospital | 1 | 0 | 0 | 0 | 0 | 1 |