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 |
|---|---|---|---|---|---|
| 18 | 2 | 7 | 0 | 1 | 27 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| HOXD13 | 18 | 1 | 6 | 1 | 25 |
| CHST11 | 0 | 0 | 1 | 0 | 1 |
| EVX2, LOC110120627 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 12 | 0 | 0 | 0 | 12 |
| Fulgent Genetics, Fulgent Genetics | 2 | 0 | 4 | 0 | 6 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 1 | 0 | 2 |
| Institute for Genomic Medicine, Nationwide Children's Hospital | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 0 | 1 | 0 | 1 |
| Hadassah Hebrew University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 0 | 0 | 1 |
| Tolun Lab, Human Genetics Laboratory, Bogazici University | 0 | 0 | 1 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |