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 | 25 | 27 | 6 | 49 |
Condition and significance breakdown #
Total conditions: 6
| Condition | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not provided | 0 | 15 | 23 | 5 | 37 |
| Inborn genetic diseases | 0 | 7 | 7 | 0 | 14 |
| Coffin-Siris syndrome 1 | 1 | 3 | 3 | 1 | 8 |
| ARID1B-related disorder | 0 | 0 | 3 | 0 | 3 |
| not specified | 0 | 2 | 1 | 0 | 3 |
| Coffin-Siris syndrome | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 7 | 16 | 4 | 27 |
| Ambry Genetics | 0 | 7 | 7 | 0 | 14 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 7 | 0 | 10 |
| GeneDx | 0 | 6 | 2 | 1 | 9 |
| Genetic Services Laboratory, University of Chicago | 0 | 2 | 1 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 3 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 2 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 1 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 2 | 0 | 2 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 0 | 0 | 1 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 0 | 1 | 0 | 0 | 1 |
| Dr.Nikuei Genetic Center | 0 | 0 | 0 | 1 | 1 |