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 |
|---|---|---|---|---|---|
| 105 | 56 | 405 | 140 | 12 | 699 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TP53 | 103 | 52 | 402 | 135 | 11 | 684 |
| TP53, WRAP53 | 1 | 1 | 3 | 5 | 1 | 11 |
| CHEK2 | 1 | 3 | 0 | 0 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 99 | 37 | 377 | 116 | 10 | 639 |
| 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 | 9 | 8 | 0 | 0 | 0 | 17 |
| Integrated Genetics/Laboratory Corporation of America | 4 | 5 | 0 | 0 | 0 | 9 |
| Genetic Services Laboratory, University of Chicago | 2 | 3 | 0 | 0 | 0 | 5 |
| CSER_CC_NCGL; University of Washington Medical Center | 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 |