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 |
|---|---|---|---|---|---|
| 1 | 5 | 9 | 5 | 4 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PDX1 | 1 | 5 | 9 | 5 | 4 | 23 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 3 | 2 | 3 | 1 | 9 |
| Mendelics | 0 | 0 | 1 | 1 | 2 | 4 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 1 | 0 | 2 | 4 |
| OMIM | 1 | 0 | 1 | 0 | 0 | 2 |
| Department Of Endocrinology, Sanjay Gandhi Postgraduate Institute Of Medical Sciences | 0 | 0 | 1 | 1 | 0 | 2 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 0 | 1 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Laboratory Medicine, Seoul National University Bundang Hospital | 0 | 1 | 0 | 0 | 0 | 1 |