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 |
| Genome-Nilou Lab | 1 | 0 | 0 | 1 | 1 | 3 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 1 | 0 | 0 | 3 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 1 | 1 | 0 | 0 | 0 | 2 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 1 | 0 | 0 | 0 | 1 |
| NxGen MDx | 0 | 1 | 0 | 0 | 0 | 1 |