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 |
|---|---|---|---|---|---|
| 6 | 2 | 8 | 1 | 15 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| DHX37 | 6 | 2 | 8 | 1 | 15 | 30 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 15 | 15 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 2 | 1 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 1 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 1 | 0 | 0 | 0 | 1 |
| Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |