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 |
|---|---|---|---|---|---|
| 3 | 0 | 16 | 3 | 49 | 69 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| TNC | 3 | 15 | 3 | 48 | 67 |
| DELEC1, PAPPA, TNC, TNFSF8 | 0 | 1 | 0 | 0 | 1 |
| LOC126860741, TNC | 0 | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 49 | 49 |
| Baylor Genetics | 0 | 5 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 4 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Geisinger Autism and Developmental Medicine Institute, Geisinger Health System | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 0 | 1 | 0 | 0 | 1 |
| Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital | 0 | 0 | 1 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 0 | 1 |
| Department of Neurology, First People's Hospital of Wuhu | 1 | 0 | 0 | 0 | 1 |