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 |
|---|---|---|---|---|---|
| 18 | 3 | 50 | 39 | 15 | 125 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ASXL1 | 17 | 3 | 50 | 39 | 15 | 124 |
| KLHL7 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 47 | 39 | 15 | 101 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| Integrated Genetics/Laboratory Corporation of America | 1 | 1 | 0 | 0 | 0 | 2 |
| Mendelics | 1 | 0 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics,Klinikum rechts der Isar | 2 | 0 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 2 | 0 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 2 | 0 | 0 | 0 | 2 |
| Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics Research Center, University of Social Welfare and Rehabilitation Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network,NIH | 1 | 0 | 0 | 0 | 0 | 1 |
| TIDEX, University of British Columbia | 1 | 0 | 0 | 0 | 0 | 1 |