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 |
|---|---|---|---|---|---|
| 10 | 1 | 4 | 3 | 2 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| TGFBR2 | 4 | 1 | 1 | 0 | 0 | 6 |
| TP53 | 4 | 0 | 0 | 1 | 0 | 5 |
| WWOX | 2 | 0 | 0 | 1 | 1 | 3 |
| BRCA2 | 0 | 0 | 2 | 0 | 0 | 2 |
| DLEC1 | 0 | 0 | 1 | 0 | 0 | 1 |
| MAF, WWOX | 0 | 0 | 0 | 1 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Mendelics | 5 | 0 | 0 | 0 | 0 | 5 |
| Institute of Biochemistry, Molecular Biology and Biotechnology, University of Colombo | 4 | 0 | 0 | 1 | 0 | 5 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 1 | 0 | 0 | 2 |
| Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen | 0 | 0 | 0 | 0 | 2 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 1 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 1 | 0 | 1 |
| 3DMed Clinical Laboratory Inc | 0 | 0 | 1 | 0 | 0 | 1 |