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 |
|---|---|---|---|---|---|
| 42 | 41 | 182 | 137 | 21 | 421 |
Gene and significance breakdown #
Total genes and gene combinations: 16
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ERCC2 | 7 | 11 | 31 | 28 | 4 | 81 |
| XPC | 14 | 5 | 30 | 18 | 2 | 69 |
| ERCC3 | 3 | 5 | 28 | 24 | 0 | 60 |
| ERCC4 | 1 | 6 | 27 | 15 | 5 | 54 |
| POLH, POLR1C | 2 | 0 | 28 | 20 | 3 | 52 |
| XPA | 9 | 7 | 13 | 7 | 1 | 37 |
| TMEM43, XPC | 0 | 0 | 1 | 13 | 6 | 20 |
| DDB2 | 0 | 0 | 10 | 8 | 0 | 18 |
| BIVM-ERCC5, ERCC5 | 5 | 2 | 0 | 2 | 0 | 9 |
| LOC129936244, XPC | 0 | 1 | 5 | 1 | 0 | 7 |
| ERCC4, LOC130058543 | 0 | 0 | 4 | 0 | 0 | 4 |
| BIVM-ERCC5, ERCC5, LOC126861834 | 1 | 3 | 0 | 0 | 0 | 3 |
| DDB2, LOC126861205 | 0 | 0 | 2 | 1 | 0 | 3 |
| LOC129996521, POLH, POLR1C | 0 | 0 | 2 | 0 | 0 | 2 |
| ERCC2, KLC3 | 0 | 0 | 1 | 0 | 0 | 1 |
| POLH | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Sema4, Sema4 | 2 | 8 | 150 | 119 | 12 | 291 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 39 | 34 | 0 | 0 | 0 | 73 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 32 | 18 | 9 | 59 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 2 | 2 | 0 | 0 | 0 | 4 |
| Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand | 2 | 1 | 0 | 0 | 0 | 3 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 1 | 0 | 0 | 0 | 1 |