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 | 21 | 5 | 0 | 26 |
Condition and significance breakdown #
Total conditions: 6
| Condition | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| not specified | 0 | 18 | 1 | 19 |
| CHST11-related disorder | 0 | 0 | 4 | 4 |
| Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | 1 | 1 | 0 | 2 |
| not provided | 0 | 1 | 1 | 2 |
| Premature ovarian failure | 0 | 1 | 0 | 1 |
| Synpolydactyly type 1; Brachydactyly; Chondrodysplasia; clino-symphalangism; overriding digits | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| Ambry Genetics | 0 | 18 | 1 | 19 |
| PreventionGenetics, part of Exact Sciences | 0 | 0 | 4 | 4 |
| OMIM | 1 | 0 | 0 | 1 |
| Quest Diagnostics Nichols Institute San Juan Capistrano | 0 | 1 | 0 | 1 |
| Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu | 0 | 1 | 0 | 1 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 1 |
| Tolun Lab, Human Genetics Laboratory, Bogazici University | 0 | 1 | 0 | 1 |