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 |
|---|---|---|---|---|---|
| 6 | 0 | 22 | 1 | 15 | 44 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| FAT4 | 6 | 22 | 1 | 15 | 44 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 15 | 15 |
| Baylor Genetics | 0 | 13 | 0 | 0 | 13 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 5 | 0 | 0 | 5 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Goettingen | 1 | 0 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 1 |