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 |
|---|---|---|---|---|---|
| 13 | 7 | 15 | 0 | 2 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| TRIT1 | 12 | 6 | 12 | 1 | 25 |
| MYCL, TRIT1 | 1 | 1 | 3 | 1 | 5 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 12 | 0 | 0 | 0 | 12 |
| SIB Swiss Institute of Bioinformatics | 1 | 1 | 4 | 0 | 6 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 4 | 2 | 0 | 6 |
| Baylor Genetics | 1 | 0 | 4 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 1 | 2 | 0 | 3 |
| Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | 2 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 1 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 1 |