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 |
|---|---|---|---|---|---|---|
| 22 | 3 | 1 | 0 | 0 | 5 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| CRLF1 | 11 | 2 | 1 | 4 | 14 |
| CRLF1, LOC112543470 | 5 | 1 | 0 | 0 | 6 |
| KLHL7 | 4 | 0 | 0 | 0 | 4 |
| CRLF1, LOC130064021 | 2 | 0 | 0 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 9 |
| GeneReviews | 1 | 0 | 0 | 5 | 6 |
| National Research Council, Institute of Genetics and Biomedical Research | 4 | 0 | 0 | 0 | 4 |
| Hacettepe Genetic Diseases Diagnosis Center, Hacettepe University Faculty of Medicine | 1 | 1 | 0 | 0 | 2 |
| Istanbul Faculty of Medicine, Istanbul University | 1 | 1 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 0 | 1 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 1 | 0 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 0 | 0 | 1 |
| Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 1 |
| Suma Genomics | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 1 |