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 | 5 | 10 | 3 | 68 | 88 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ATP1A2 | 5 | 5 | 9 | 3 | 64 | 83 |
| ATP1A2, LOC126805890 | 0 | 0 | 1 | 0 | 4 | 5 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 68 | 68 |
| Fulgent Genetics, Fulgent Genetics | 1 | 0 | 3 | 3 | 0 | 7 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 0 | 3 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 2 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Inherited Metabolic Diseases, Karolinska University Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Neurology, Xijing Hospital, Fourth Military Medical University | 0 | 0 | 1 | 0 | 0 | 1 |