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 |
|---|---|---|---|---|---|
| 5 | 0 | 61 | 16 | 17 | 92 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Familial visceral amyloidosis, Ostertag type | 2 | 26 | 5 | 17 | 49 |
| not provided | 2 | 16 | 8 | 11 | 36 |
| Amyloidosis, hereditary systemic 5 | 3 | 20 | 3 | 0 | 25 |
| Inborn genetic diseases | 0 | 5 | 6 | 0 | 11 |
| not specified | 0 | 3 | 1 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 24 | 3 | 17 | 44 |
| Fulgent Genetics, Fulgent Genetics | 0 | 21 | 4 | 0 | 25 |
| Labcorp Genetics (formerly Invitae), Labcorp | 1 | 13 | 7 | 3 | 24 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 3 | 1 | 9 | 13 |
| Ambry Genetics | 0 | 5 | 6 | 0 | 11 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Genetic Services Laboratory, University of Chicago | 0 | 2 | 1 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 0 | 0 | 3 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 2 | 0 | 0 | 2 |
| Mayo Clinic Laboratories, Mayo Clinic | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 1 |