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 |
|---|---|---|---|---|---|
| 1 | 0 | 127 | 31 | 9 | 165 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 121 | 12 | 1 | 134 |
| not provided | 0 | 5 | 16 | 7 | 28 |
| CLIP1-related disorder | 0 | 1 | 6 | 1 | 8 |
| CLIP1-related intellectual disability | 0 | 3 | 0 | 0 | 3 |
| EBV-positive nodal T- and NK-cell lymphoma | 0 | 0 | 1 | 0 | 1 |
| Short stature | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 103 | 5 | 0 | 108 |
| Genetic Services Laboratory, University of Chicago | 0 | 18 | 7 | 1 | 26 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 1 | 15 | 6 | 22 |
| PreventionGenetics, part of Exact Sciences | 0 | 1 | 6 | 1 | 8 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 1 | 2 | 4 |
| New York Genome Center | 0 | 3 | 0 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 1 | 2 |
| OMIM | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg | 1 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 1 |
| Department of Clinical Pathology, School of Medicine, Fujita Health University | 0 | 0 | 1 | 0 | 1 |