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 | risk factor | not provided | total |
|---|---|---|---|---|---|---|---|
| 0 | 0 | 64 | 16 | 13 | 3 | 3 | 92 |
Condition and significance breakdown #
| Condition | uncertain significance | likely benign | benign | risk factor | not provided | total |
|---|---|---|---|---|---|---|
| not specified | 54 | 2 | 0 | 0 | 0 | 56 |
| not provided | 3 | 9 | 5 | 0 | 2 | 17 |
| TLR2-related disorder | 0 | 4 | 11 | 0 | 0 | 15 |
| Leprosy, susceptibility to, 3; Mycobacterium tuberculosis, susceptibility to; Colorectal cancer | 2 | 1 | 0 | 0 | 0 | 3 |
| COVID-19–associated multisystem inflammatory syndrome in adults | 2 | 0 | 0 | 0 | 0 | 2 |
| Leprosy, susceptibility to, 3; Colorectal cancer | 2 | 0 | 0 | 0 | 0 | 2 |
| Colorectal cancer | 1 | 0 | 0 | 0 | 0 | 1 |
| Colorectal cancer, susceptibility to | 0 | 0 | 0 | 1 | 0 | 1 |
| Hereditary angioedema with normal C1Inh | 0 | 0 | 0 | 0 | 1 | 1 |
| Leprosy, susceptibility to, 3 | 0 | 0 | 0 | 1 | 0 | 1 |
| Mycobacterium tuberculosis, susceptibility to | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
| Submitter | uncertain significance | likely benign | benign | risk factor | not provided | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 54 | 2 | 0 | 0 | 0 | 56 |
| PreventionGenetics, part of Exact Sciences | 0 | 4 | 11 | 0 | 0 | 15 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 6 | 5 | 0 | 0 | 11 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 5 | 0 | 0 | 0 | 0 | 5 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 4 | 0 | 0 | 5 |
| OMIM | 0 | 0 | 0 | 3 | 0 | 3 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 0 | 0 | 0 | 3 |
| Human Evolutionary Genetics, Institut Pasteur | 0 | 0 | 0 | 0 | 2 | 2 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 2 | 0 | 0 | 0 | 0 | 2 |
| HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas | 2 | 0 | 0 | 0 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| CeMIA | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 0 | 0 | 0 | 1 |