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 | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 79 | 16 | 19 | 2 | 112 |
Condition and significance breakdown #
Total conditions: 5
| Condition | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| not specified | 75 | 1 | 0 | 0 | 76 |
| not provided | 2 | 13 | 9 | 0 | 24 |
| IRS2-related disorder | 1 | 2 | 10 | 0 | 13 |
| Type 2 diabetes mellitus | 1 | 0 | 0 | 2 | 3 |
| See cases | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | uncertain significance | likely benign | benign | risk factor | total |
|---|---|---|---|---|---|
| Ambry Genetics | 75 | 1 | 0 | 0 | 76 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 10 | 8 | 0 | 18 |
| PreventionGenetics, part of Exact Sciences | 1 | 2 | 10 | 0 | 13 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 3 | 5 | 0 | 8 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 1 | 0 | 4 |
| OMIM | 0 | 0 | 0 | 2 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 2 | 0 | 0 | 0 | 2 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 1 | 0 | 0 | 1 |
| ISCA Site 6 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 1 |