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 |
|---|---|---|---|---|---|
| 3 | 3 | 33 | 43 | 7 | 87 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not provided | 3 | 0 | 31 | 43 | 6 | 81 |
| Inborn genetic diseases | 0 | 0 | 4 | 0 | 0 | 4 |
| MTHFD1-related disorder | 0 | 0 | 0 | 1 | 3 | 4 |
| Severe combined immunodeficiency disease | 0 | 2 | 0 | 0 | 0 | 2 |
| Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 0 | 1 | 0 | 0 | 0 | 1 |
| Neural tube defects, folate-sensitive; Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | 0 | 0 | 1 | 0 | 0 | 1 |
| not specified | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Labcorp Genetics (formerly Invitae), Labcorp | 3 | 0 | 31 | 41 | 6 | 81 |
| Ambry Genetics | 0 | 0 | 4 | 0 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 3 | 4 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 2 | 0 | 1 | 0 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 1 | 2 | 3 |
| GeneDx | 0 | 0 | 0 | 0 | 1 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 0 | 1 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 0 | 1 |