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 |
|---|---|---|---|---|---|
| 4 | 6 | 6 | 0 | 3 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| B9D1 | 4 | 6 | 5 | 2 | 16 |
| B9D1, LOC130060455 | 0 | 0 | 1 | 1 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 3 | 3 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Blueprint Genetics | 0 | 1 | 1 | 0 | 2 |
| New York Genome Center | 0 | 1 | 1 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 1 |
| Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 1 |
| Kids Neuroscience Centre, Sydney Children's Hospitals Network | 0 | 1 | 0 | 0 | 1 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 0 | 1 | 0 | 0 | 1 |
| UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill | 0 | 1 | 0 | 0 | 1 |