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 |
|---|---|---|---|---|---|
| 17 | 67 | 158 | 8 | 12 | 246 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| MKS1 | 16 | 63 | 147 | 6 | 11 | 229 |
| LOC130061271, MKS1 | 1 | 4 | 11 | 2 | 1 | 17 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 4 | 24 | 88 | 0 | 0 | 116 |
| Baylor Genetics | 13 | 42 | 2 | 0 | 0 | 57 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 45 | 4 | 8 | 57 |
| Counsyl | 0 | 21 | 24 | 4 | 0 | 49 |
| New York Genome Center | 0 | 0 | 11 | 0 | 0 | 11 |
| Genome-Nilou Lab | 0 | 0 | 4 | 0 | 6 | 10 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 2 | 0 | 3 | 0 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 1 | 1 | 0 | 0 | 0 | 2 |
| Molecular Endocrinology Laboratory, Christian Medical College | 0 | 0 | 2 | 0 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Paediatric Medicine, Post Graduation Institute of Medical Education and Research | 0 | 1 | 0 | 0 | 0 | 1 |
| InterGenetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, University of Torino | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 1 |
| Pars Genome Lab | 0 | 0 | 1 | 0 | 0 | 1 |