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 | association | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 307 | 52 | 46 | 1 | 399 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| not specified | 291 | 4 | 0 | 0 | 295 |
| BIRC6-related disorder | 14 | 34 | 33 | 0 | 81 |
| not provided | 3 | 20 | 28 | 0 | 49 |
| Autism spectrum disorder | 0 | 0 | 0 | 1 | 1 |
| Hereditary breast ovarian cancer syndrome | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | uncertain significance | likely benign | benign | association | total |
|---|---|---|---|---|---|
| Ambry Genetics | 291 | 4 | 0 | 0 | 295 |
| PreventionGenetics, part of Exact Sciences | 14 | 34 | 33 | 0 | 81 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 7 | 25 | 0 | 32 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 4 | 23 | 0 | 27 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 13 | 3 | 0 | 17 |
| GeneDx | 0 | 0 | 1 | 0 | 1 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 0 | 0 | 1 | 1 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 1 |
| Molecular Oncology Research Center, Barretos Cancer Hospital | 1 | 0 | 0 | 0 | 1 |