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 |
|---|---|---|---|---|---|
| 7 | 6 | 49 | 0 | 2 | 61 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| MARVELD2 | 7 | 6 | 49 | 2 | 61 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 1 | 0 | 43 | 2 | 46 |
| OMIM | 5 | 0 | 0 | 0 | 5 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 5 | 0 | 5 |
| Revvity Omics, Revvity | 1 | 1 | 1 | 0 | 3 |
| 3billion | 2 | 0 | 0 | 0 | 2 |
| WangQJ Lab, Chinese People's Liberation Army General Hospital | 0 | 2 | 0 | 0 | 2 |
| King Laboratory, University of Washington | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 0 | 1 | 0 | 1 |
| Center of Genomic medicine, Geneva, University Hospital of Geneva | 1 | 0 | 0 | 0 | 1 |
| UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 0 | 1 | 0 | 0 | 1 |
| Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| DASA | 1 | 0 | 0 | 0 | 1 |