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 |
|---|---|---|---|---|---|---|
| 18 | 1 | 2 | 0 | 0 | 1 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| IKBKG | 16 | 1 | 1 | 1 | 18 |
| CTAG1A, IKBKG | 1 | 0 | 0 | 0 | 1 |
| G6PD, IKBKG, LOC108281126 | 0 | 0 | 1 | 0 | 1 |
| IKBKG, LOC107988021 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| OMIM | 13 | 0 | 0 | 0 | 13 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 1 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 1 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 1 |
| Department of Medical Genetics, College of Basic Medicine, Army Medical University | 1 | 0 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 0 | 1 | 0 | 1 |
| Gemeinschaftspraxis fuer Humangenetik Dresden | 1 | 0 | 0 | 0 | 1 |
| Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University | 0 | 0 | 1 | 0 | 1 |