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 |
|---|---|---|---|---|---|
| 4 | 0 | 16 | 3 | 2 | 25 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| SLC25A22 | 4 | 16 | 2 | 2 | 24 |
| PIDD1 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Revvity Omics, Revvity | 0 | 6 | 0 | 0 | 6 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 1 | 2 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 3 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 2 | 0 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 2 | 2 |
| 3billion | 1 | 0 | 1 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |