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 |
|---|---|---|---|---|---|
| 12 | 3 | 5 | 0 | 1 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| ZC4H2 | 11 | 3 | 5 | 1 | 20 |
| LOC130068372, LOC130068373, LOC130068374, ZC3H12B, ZC4H2 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 3 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 1 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 1 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 1 |
| UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 0 | 0 | 1 | 0 | 1 |
| Lifecell International Pvt. Ltd | 1 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 1 |
| Pediatric Genetics Clinic, Sheba Medical Center | 1 | 0 | 0 | 0 | 1 |
| Provincial Medical Genetics Program of British Columbia, University of British Columbia | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |