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 | not provided | total |
|---|---|---|---|---|---|---|
| 6 | 1 | 4 | 1 | 3 | 6 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| TGFB1 | 5 | 1 | 3 | 1 | 2 | 5 | 13 |
| LOC130064510, TGFB1 | 1 | 0 | 0 | 0 | 1 | 1 | 2 |
| LRP5 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 0 | 0 | 6 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 6 | 6 |
| Mendelics | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Undiagnosed Diseases Network, NIH | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 0 | 0 | 0 | 0 | 1 |