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 |
|---|---|---|---|---|---|
| 10 | 1 | 3 | 4 | 5 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CACNA1F | 10 | 1 | 3 | 4 | 5 | 23 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 5 | 5 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 2 | 0 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 2 | 0 | 0 | 0 | 0 | 2 |
| Pars Genome Lab | 0 | 0 | 0 | 2 | 0 | 2 |
| Genomics England Pilot Project, Genomics England | 2 | 0 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Tolun Lab, Human Genetics Laboratory, Bogazici University | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 1 | 0 | 0 | 1 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 0 | 0 | 0 | 0 | 1 |