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 |
|---|---|---|---|---|---|
| 33 | 6 | 2 | 0 | 0 | 41 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| ARX | 25 | 5 | 1 | 31 |
| ARX, LOC109610631 | 8 | 1 | 1 | 10 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Genetic Services Laboratory, University of Chicago | 19 | 3 | 0 | 22 |
| OMIM | 10 | 0 | 0 | 10 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 1 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 1 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 1 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 1 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 1 | 0 | 0 | 1 |
| Savagenome Genetic Health Clinic, Tarbiat Modares University | 1 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 1 | 0 | 0 | 1 |
| Suma Genomics | 0 | 1 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 1 | 0 | 0 | 1 |