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 | drug response | other | not provided | total |
|---|---|---|---|---|---|---|---|---|
| 0 | 0 | 18 | 8 | 1 | 12 | 2 | 1 | 36 |
Condition and significance breakdown #
Total conditions: 6
| Condition | uncertain significance | likely benign | benign | drug response | other | not provided | total |
|---|---|---|---|---|---|---|---|
| not specified | 14 | 2 | 0 | 0 | 0 | 0 | 16 |
| Thiopurine S-methyltransferase deficiency | 4 | 0 | 0 | 7 | 0 | 0 | 11 |
| not provided | 0 | 5 | 1 | 0 | 2 | 1 | 6 |
| Thiopurine response | 0 | 0 | 0 | 4 | 0 | 0 | 4 |
| TPMT-related disorder | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
| Azathioprine response | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | uncertain significance | likely benign | benign | drug response | other | not provided | total |
|---|---|---|---|---|---|---|---|
| Ambry Genetics | 14 | 1 | 0 | 0 | 0 | 0 | 15 |
| OMIM | 0 | 0 | 0 | 7 | 0 | 0 | 7 |
| Illumina Laboratory Services, Illumina | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 1 | 0 | 0 | 0 | 4 |
| Division of Drug Research, Linkoping University | 0 | 0 | 0 | 4 | 0 | 0 | 4 |
| PreventionGenetics, part of Exact Sciences | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 3 | 0 | 0 | 0 | 0 | 3 |
| GeneDx | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Eurofins Ntd Llc (ga) | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Neurology IV Unit; Fondazione Istituto Neurologico C. Besta | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Pharmacogenetics and Inflammatory Diseases Research Group, University of Otago | 0 | 0 | 0 | 0 | 0 | 1 | 1 |