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 |
|---|---|---|---|---|---|
| 1 | 0 | 158 | 48 | 21 | 226 |
Condition and significance breakdown #
Total conditions: 5
| Condition | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| not specified | 0 | 155 | 7 | 0 | 162 |
| not provided | 0 | 4 | 18 | 17 | 39 |
| PTPRF-related disorder | 0 | 0 | 22 | 8 | 30 |
| Breasts and/or nipples, aplasia or hypoplasia of, 2 | 1 | 1 | 0 | 0 | 2 |
| EBV-positive nodal T- and NK-cell lymphoma | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Ambry Genetics | 0 | 154 | 7 | 0 | 161 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 15 | 16 | 31 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 22 | 8 | 30 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 2 | 3 | 10 | 15 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 4 | 0 | 5 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| GeneDx | 0 | 0 | 0 | 1 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 1 | 0 | 0 | 1 |
| Department of Clinical Pathology, School of Medicine, Fujita Health University | 0 | 0 | 1 | 0 | 1 |