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 |
|---|---|---|---|---|---|
| 8 | 4 | 5 | 0 | 1 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| L1CAM | 8 | 4 | 5 | 1 | 18 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Baylor Genetics | 0 | 0 | 2 | 0 | 2 |
| Centogene AG - the Rare Disease Company | 0 | 0 | 1 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 1 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 1 |
| Institute for Human Genetics and Genomic Medicine, Uniklinik RWTH Aachen | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| DASA | 1 | 0 | 0 | 0 | 1 |
| Provincial Medical Genetics Program of British Columbia, University of British Columbia | 0 | 1 | 0 | 0 | 1 |