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 | 4 | 212 | 42 | 18 | 270 |
Condition and significance breakdown #
Total conditions: 4
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 0 | 202 | 19 | 0 | 221 |
| not provided | 1 | 3 | 9 | 22 | 17 | 52 |
| Peeling skin syndrome 6 | 1 | 1 | 4 | 0 | 1 | 6 |
| FLG2-related disorder | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 202 | 19 | 0 | 221 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 1 | 3 | 22 | 1 | 27 |
| GeneDx | 0 | 1 | 4 | 0 | 16 | 21 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 14 | 14 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 2 | 0 | 0 | 3 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 0 | 2 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 1 | 0 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |