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 |
|---|---|---|---|---|---|
| 0 | 1 | 10 | 4 | 0 | 15 |
Condition and significance breakdown #
Total conditions: 4
| Condition | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| not provided | 0 | 4 | 2 | 6 |
| Inborn genetic diseases | 0 | 3 | 2 | 5 |
| Intellectual developmental disorder, autosomal dominant 64 | 1 | 2 | 0 | 3 |
| ZNF292-related disorder | 0 | 1 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Ambry Genetics | 0 | 3 | 2 | 5 |
| GeneDx | 0 | 4 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 1 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 2 | 2 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 0 | 1 | 0 | 1 |