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 | 3 | 5 | 1 | 0 | 13 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| WBP11 | 4 | 2 | 5 | 1 | 12 |
| C12orf60, WBP11 | 1 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, Heidelberg University | 0 | 1 | 0 | 0 | 1 |
| Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital, College of Medicine, The Catholic University of Korea | 1 | 0 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 0 | 1 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 1 |