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 |
|---|---|---|---|---|---|
| 15 | 3 | 2 | 0 | 24 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| PIEZO2 | 15 | 3 | 2 | 24 | 44 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 24 | 24 |
| University of Washington Center for Mendelian Genomics, University of Washington | 11 | 0 | 0 | 0 | 11 |
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Mendelics | 3 | 0 | 0 | 0 | 3 |
| Institute of Human Genetics, Cologne University | 0 | 0 | 1 | 0 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 1 | 0 | 0 | 1 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 1 |