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 | 6 | 7 | 0 | 5 | 1 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| MKS1 | 6 | 6 | 7 | 5 | 1 | 24 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 1 | 4 | 5 | 0 | 10 |
| Counsyl | 1 | 3 | 1 | 0 | 0 | 5 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Gene Discovery Core-Manton Center, Boston Children's Hospital | 2 | 0 | 0 | 0 | 0 | 2 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 1 | 0 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 1 |