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 | not provided | total |
|---|---|---|---|---|---|---|
| 2 | 0 | 10 | 1 | 0 | 3 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|
| ELOVL5 | 2 | 10 | 1 | 3 | 14 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|
| GeneReviews | 0 | 0 | 0 | 3 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 2 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 2 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 0 | 1 | 0 | 1 |
| O&I group, Department of Genetics, University Medical Center of Groningen | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 1 |