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 | 1 | 16 | 18 | 5 | 37 |
Condition and significance breakdown #
Total conditions: 8
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Adams-Oliver syndrome 5 | 0 | 0 | 9 | 9 | 3 | 20 |
| not provided | 0 | 1 | 5 | 6 | 3 | 15 |
| Familial thoracic aortic aneurysm and aortic dissection | 0 | 0 | 5 | 5 | 1 | 10 |
| not specified | 0 | 0 | 1 | 4 | 0 | 5 |
| Aortic valve disease 1 | 0 | 0 | 3 | 0 | 1 | 4 |
| NOTCH1-related disorder | 0 | 0 | 1 | 3 | 0 | 4 |
| Aortic valve disease 1; Adams-Oliver syndrome 5 | 0 | 0 | 1 | 0 | 0 | 1 |
| Myeloproliferative neoplasm, unclassifiable | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 8 | 9 | 3 | 20 |
| GeneDx | 0 | 0 | 5 | 4 | 3 | 12 |
| Ambry Genetics | 0 | 0 | 4 | 5 | 1 | 10 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 1 | 3 | 0 | 4 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 0 | 1 | 3 | 0 | 4 |
| Genome-Nilou Lab | 0 | 0 | 3 | 0 | 1 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 3 | 0 | 3 |
| CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 1 |
| Dept. of Cytogenetics, ICMR- National Institute of Immunohaematology | 1 | 0 | 0 | 0 | 0 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 1 | 1 |