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 |
|---|---|---|---|---|---|
| 416 | 240 | 760 | 2180 | 178 | 3660 |
Gene and significance breakdown #
Total genes and gene combinations: 35
Submitter and significance breakdown #
Total submitters: 6
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 340 | 127 | 731 | 2180 | 178 | 3556 |
| University of Washington Center for Mendelian Genomics, University of Washington | 1 | 110 | 0 | 0 | 0 | 111 |
| Dan Cohn Lab, University Of California Los Angeles | 89 | 4 | 12 | 0 | 0 | 105 |
| Rare Disease Group, Clinical Genetics, Karolinska Institutet | 11 | 9 | 17 | 0 | 0 | 37 |
| Molecular Genetics laboratory, Necker Hospital | 2 | 0 | 0 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 0 | 1 |