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 |
|---|---|---|---|---|---|
| 5 | 1 | 79 | 17 | 30 | 131 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RIPK4 | 5 | 1 | 79 | 17 | 30 | 131 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 73 | 16 | 28 | 117 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 11 | 11 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 2 | 0 | 0 | 2 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 1 |
| Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi | 0 | 0 | 1 | 0 | 0 | 1 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 0 | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 1 |