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 |
|---|---|---|---|---|---|
| 4 | 1 | 18 | 6 | 3 | 30 |
Condition and significance breakdown #
Total conditions: 7
| Condition | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| not specified | 0 | 0 | 17 | 1 | 0 | 18 |
| not provided | 0 | 1 | 3 | 1 | 3 | 8 |
| Spondyloepimetaphyseal dysplasia, di rocco type | 3 | 1 | 0 | 0 | 0 | 3 |
| UFSP2-related disorder | 0 | 0 | 0 | 3 | 0 | 3 |
| Hip dysplasia, Beukes type | 2 | 0 | 0 | 0 | 0 | 2 |
| Developmental and epileptic encephalopathy 106 | 0 | 0 | 1 | 0 | 0 | 1 |
| Hip dysplasia, Beukes type; Spondyloepimetaphyseal dysplasia, di rocco type | 0 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Ambry Genetics | 0 | 0 | 17 | 1 | 0 | 18 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 0 | 3 | 0 | 3 |
| Labcorp Genetics (formerly Invitae), Labcorp | 0 | 0 | 0 | 0 | 3 | 3 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 0 | 0 | 0 | 3 | 3 |
| GeneDx | 0 | 1 | 1 | 0 | 0 | 2 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 1 | 0 | 2 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 0 | 1 | 0 | 0 | 1 |
| UOSD Genetics and Genomics of Rare Diseases, Istituto Giannina Gaslini | 1 | 0 | 0 | 0 | 0 | 1 |
| SIB Swiss Institute of Bioinformatics | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi Medical College | 0 | 1 | 0 | 0 | 0 | 1 |