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 |
|---|---|---|---|---|---|---|
| 1 | 1 | 92 | 16 | 13 | 3 | 123 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| JUP | 1 | 1 | 89 | 16 | 12 | 3 | 119 |
| JUP, LOC130060847 | 0 | 0 | 3 | 0 | 1 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 80 | 15 | 10 | 0 | 105 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 5 | 0 | 5 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 5 | 0 | 0 | 0 | 5 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| MGZ Medical Genetics Center | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Cardiology, Hunan Children’s Hospital | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Phosphorus, Inc. | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 0 | 0 | 1 | 0 | 0 | 0 | 1 |