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 |
|---|---|---|---|---|---|
| 15 | 7 | 7 | 0 | 2 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| IBA57 | 15 | 7 | 7 | 2 | 29 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 13 | 0 | 0 | 0 | 13 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 3 | 0 | 4 |
| The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 1 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Molecular Diagnostic Laboratory, Beijing Chigene Translational Medicine Research Center | 1 | 1 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 1 |
| Solve-RD Consortium | 0 | 1 | 0 | 0 | 1 |