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 |
|---|---|---|---|---|---|
| 12 | 9 | 60 | 8 | 7 | 88 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| KCNJ11 | 12 | 9 | 57 | 7 | 6 | 84 |
| ABCC8, KCNJ11 | 0 | 0 | 3 | 1 | 1 | 4 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 56 | 6 | 2 | 64 |
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| Genetic Services Laboratory, University of Chicago | 3 | 4 | 1 | 0 | 0 | 8 |
| Athena Diagnostics | 0 | 0 | 0 | 0 | 4 | 4 |
| Pars Genome Lab | 0 | 0 | 0 | 2 | 2 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 1 | 0 | 0 | 3 |
| Genome-Nilou Lab | 1 | 0 | 0 | 1 | 1 | 3 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 1 | 1 | 0 | 0 | 0 | 2 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 0 | 1 | 0 | 0 | 1 |
| NxGen MDx | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |