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 |
|---|---|---|---|---|---|
| 23 | 7 | 21 | 14 | 26 | 90 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| KIAA0586 | 23 | 7 | 21 | 14 | 26 | 90 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 14 | 3 | 20 | 14 | 25 | 76 |
| UW Hindbrain Malformation Research Program,University of Washington | 9 | 0 | 0 | 0 | 0 | 9 |
| OMIM | 5 | 0 | 0 | 0 | 0 | 5 |
| Mendelics | 1 | 0 | 0 | 0 | 2 | 3 |
| Mayo Clinic Genetic Testing Laboratories,Mayo Clinic | 1 | 0 | 1 | 0 | 0 | 2 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 2 | 0 | 0 | 0 | 0 | 2 |
| Genetic Services Laboratory,University of Chicago | 0 | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services,Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics,Klinikum rechts der Isar | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill | 0 | 1 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics,Johns Hopkins University | 0 | 1 | 0 | 0 | 0 | 1 |