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 |
|---|---|---|---|---|---|
| 21 | 6 | 8 | 2 | 0 | 36 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| FOXC2 | 21 | 6 | 8 | 2 | 36 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 16 | 0 | 0 | 0 | 16 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 2 | 4 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 3 |
| Revvity Omics, Revvity | 2 | 0 | 1 | 0 | 3 |
| Illumina Laboratory Services, Illumina | 1 | 0 | 1 | 0 | 2 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 1 | 0 | 0 | 2 |
| Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota | 1 | 1 | 0 | 0 | 2 |
| 3billion | 0 | 2 | 0 | 0 | 2 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Hadassah Hebrew University Medical Center | 0 | 1 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 1 | 0 | 0 | 0 | 1 |
| Center for Molecular Medicine, Children’s Hospital of Fudan University | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 1 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 1 |