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 |
|---|---|---|---|---|---|
| 9 | 7 | 7 | 0 | 0 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| TOGARAM1 | 9 | 7 | 7 | 23 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| OMIM | 7 | 0 | 0 | 7 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 2 | 2 | 4 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 2 | 0 | 2 |
| 3billion | 0 | 0 | 1 | 1 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| Department of Human Genetics, Hannover Medical School | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 1 |
| Diagnostics Division, CENTRE FOR DNA FINGERPRINTING AND DIAGNOSTICS | 0 | 0 | 1 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 1 |
| Suma Genomics | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 1 |