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 |
|---|---|---|---|---|---|
| 5 | 6 | 8 | 0 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| WDR37 | 4 | 5 | 8 | 0 | 15 |
| LOC126860809, WDR37 | 0 | 1 | 0 | 1 | 2 |
| ADARB2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, DIP2C, GTPBP4, IDI1, IDI2, KLF6, LARP4B, PFKP, PITRM1, TUBB8, WDR37, ZMYND11 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 17
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Human Developmental Genetics Laboratory, Medical College of Wisconsin | 0 | 2 | 1 | 0 | 3 |
| New York Genome Center | 0 | 0 | 3 | 0 | 3 |
| Baylor Genetics | 0 | 1 | 1 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, University of Torino | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| 3billion, Medical Genetics | 0 | 1 | 0 | 0 | 1 |
| Suma Genomics | 1 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |
| Department Of Biochemistry, Hamamatsu University School Of Medicine | 0 | 1 | 0 | 0 | 1 |