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 | 6 | 1 | 3 | 0 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| KIZ | 2 | 4 | 0 | 3 | 9 |
| KIZ, LOC130065507 | 3 | 2 | 0 | 0 | 4 |
| KIZ, LOC130065509 | 1 | 0 | 1 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 1 | 3 | 5 |
| 3billion | 2 | 1 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 0 | 0 | 3 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 1 | 2 | 0 | 0 | 3 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 1 | 1 | 0 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 1 |
| Ocular Genomics Institute, Massachusetts Eye and Ear | 1 | 0 | 0 | 0 | 1 |
| Ramesar Group, Division of Human Genetics, Institute of Infectious Diseases and Molecular Medicine, UCT/MRC Genomic and Precision Medicine Research Unit, University of Cape Town | 1 | 0 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 1 | 0 | 0 | 0 | 1 |