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 | risk factor | total |
|---|---|---|---|---|---|---|
| 2 | 5 | 5 | 2 | 0 | 4 | 17 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|---|
| NEK1 | 2 | 5 | 5 | 2 | 4 | 17 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 1 | 2 | 1 | 0 | 5 |
| OMIM | 0 | 0 | 0 | 0 | 4 | 4 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 2 | 1 | 0 | 3 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 1 | 1 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| Human Genetics Bochum, Ruhr University Bochum | 0 | 1 | 0 | 0 | 0 | 1 |
| Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital | 0 | 1 | 0 | 0 | 0 | 1 |