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 |
|---|---|---|---|---|---|
| 3 | 3 | 20 | 4 | 10 | 37 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Inborn genetic diseases | 0 | 0 | 17 | 1 | 0 | 18 |
| not provided | 1 | 0 | 2 | 2 | 8 | 13 |
| Porokeratosis 1, Mibelli type | 2 | 1 | 1 | 1 | 0 | 5 |
| PMVK-related disorder | 1 | 0 | 0 | 0 | 3 | 4 |
| Linear porokeratosis | 0 | 3 | 0 | 0 | 0 | 3 |
| PMVK-associated autoinflammatory disorder | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 17 | 1 | 0 | 18 |
| GeneDx | 0 | 0 | 0 | 0 | 8 | 8 |
| PreventionGenetics, part of Exact Sciences | 1 | 0 | 0 | 0 | 3 | 4 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 4 | 4 |
| Yale Center for Mendelian Genomics, Yale University | 0 | 3 | 0 | 0 | 0 | 3 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 1 | 1 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 1 | 0 | 0 | 1 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics | 0 | 0 | 0 | 1 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, Skane University Hospital Lund | 0 | 0 | 1 | 0 | 0 | 1 |