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 |
|---|---|---|---|---|---|
| 5 | 2 | 4 | 0 | 1 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| L1CAM | 5 | 2 | 4 | 1 | 11 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| 3billion | 0 | 1 | 1 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 1 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Center for Molecular Medicine, Children’s Hospital of Fudan University | 1 | 0 | 0 | 0 | 1 |
| Dobyns Lab, Seattle Children's Research Institute | 1 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 1 |
| Eurofins-Biomnis | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 0 | 1 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 1 |