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 |
|---|---|---|---|---|---|---|
| 2 | 1 | 26 | 11 | 2 | 3 | 42 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| NSDHL | 2 | 1 | 26 | 11 | 2 | 3 | 42 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 22 | 10 | 0 | 0 | 32 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 3 | 3 |
| New York Genome Center | 0 | 0 | 3 | 0 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Immunology and Genetics Kaiserslautern | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 0 | 1 |