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 |
|---|---|---|---|---|---|---|
| 9 | 41 | 124 | 4 | 5 | 1 | 176 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| MKS1 | 9 | 38 | 117 | 3 | 5 | 1 | 165 |
| LOC130061271, MKS1 | 0 | 3 | 7 | 1 | 0 | 0 | 11 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 4 | 24 | 88 | 0 | 0 | 0 | 116 |
| Counsyl | 1 | 21 | 24 | 4 | 0 | 0 | 50 |
| New York Genome Center | 0 | 0 | 11 | 0 | 0 | 0 | 11 |
| Genome-Nilou Lab | 0 | 1 | 4 | 0 | 5 | 0 | 10 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 2 | 0 | 3 | 0 | 0 | 0 | 5 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Gene Discovery Core-Manton Center, Boston Children's Hospital | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |