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 |
|---|---|---|---|---|---|
| 14 | 10 | 23 | 3 | 11 | 61 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SPTBN4 | 13 | 9 | 20 | 3 | 11 | 56 |
| LOC130064467, SPTBN4 | 1 | 1 | 2 | 0 | 0 | 4 |
| ITGB4 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 11 | 11 |
| Revvity Omics, Revvity | 0 | 0 | 8 | 0 | 0 | 8 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 6 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 3 | 1 | 0 | 0 | 5 |
| New York Genome Center | 0 | 0 | 5 | 0 | 0 | 5 |
| Baylor Genetics | 1 | 1 | 2 | 0 | 0 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 3 | 0 | 0 | 4 |
| Charité Universitätsmedizin Berlin, Charite Universitaetsmedizin Berlin | 3 | 1 | 0 | 0 | 0 | 4 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 3 | 0 | 0 | 4 |
| 3billion, Medical Genetics | 0 | 0 | 0 | 3 | 0 | 3 |
| MGZ Medical Genetics Center | 0 | 1 | 1 | 0 | 0 | 2 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Palindrome, Gene Kavoshgaran Aria | 1 | 0 | 0 | 0 | 0 | 1 |