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 |
|---|---|---|---|---|---|
| 11 | 6 | 11 | 0 | 1 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| AGTPBP1 | 11 | 5 | 10 | 0 | 26 |
| AGTPBP1, LOC130001960 | 0 | 1 | 1 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 0 | 8 |
| Revvity Omics, Revvity | 0 | 3 | 3 | 0 | 6 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 4 | 0 | 4 |
| Baylor Genetics | 0 | 1 | 2 | 0 | 3 |
| Institute of Human Genetics, Cologne University | 1 | 1 | 0 | 0 | 2 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 1 | 0 | 1 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 2 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 0 | 1 |
| Cytogenetics and Genomics Lab, Cyprus Institute Of Neurology and Genetics | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 1 |
| National Institute of Neuroscience, National Center of Neurology and Psychiatry | 1 | 0 | 0 | 0 | 1 |
| Dr.Nikuei Genetic Center | 0 | 0 | 0 | 1 | 1 |