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 |
|---|---|---|---|---|---|
| 15 | 4 | 2 | 1 | 3 | 25 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| L1CAM | 15 | 4 | 2 | 0 | 0 | 21 |
| L1CAM, LCA10 | 0 | 0 | 0 | 1 | 3 | 4 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| Mendelics | 1 | 1 | 0 | 1 | 3 | 6 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Hehr Laboratory,Center for Human Genetics - University of Regensburg | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, Klinikum rechts der Isar | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Center of Genomic medicine, Geneva,University Hospital of Geneva | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 1 | 0 | 0 | 0 | 0 | 1 |
| MVZ Praenatalmedizin und Genetik Nuernberg | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Geisinger Autism and Developmental Medicine Institute,Geisinger Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia | 0 | 1 | 0 | 0 | 0 | 1 |