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 | 4 | 17 | 0 | 1 | 31 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| PLPBP | 10 | 4 | 10 | 1 | 24 |
| LOC113788277, PLPBP | 0 | 0 | 7 | 0 | 7 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Baylor Genetics | 0 | 0 | 5 | 0 | 5 |
| Revvity Omics, Revvity | 2 | 0 | 2 | 0 | 4 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 3 | 0 | 1 | 0 | 4 |
| Neurogenetics Team, Indira Gandhi Institute of Child Health | 0 | 0 | 4 | 0 | 4 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 2 | 1 | 0 | 0 | 3 |
| New York Genome Center | 0 | 0 | 3 | 0 | 3 |
| Mendelics | 0 | 0 | 2 | 0 | 2 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 0 | 2 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 1 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 0 | 1 | 0 | 1 |
| 3billion, Medical Genetics | 0 | 1 | 0 | 0 | 1 |