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 | 20 | 89 | 22 | 7 | 148 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| AMN | 7 | 15 | 77 | 20 | 7 | 125 |
| AMN, LOC130056554 | 3 | 2 | 12 | 1 | 0 | 18 |
| AMN, LOC130056553 | 0 | 3 | 0 | 1 | 0 | 4 |
| AMN, CDC42BPB, LOC130056553 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 15 | 83 | 20 | 2 | 122 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 2 | 2 | 5 | 9 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 7 |
| 3billion | 1 | 1 | 2 | 0 | 0 | 4 |
| First Genomix Gene Laboratory, Genetic Diagnostics Department | 1 | 1 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 1 | 1 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 1 | 0 | 0 | 2 |
| Department of Hematology, Children's Hospital Affiliated to Kunming Medical University | 1 | 0 | 0 | 0 | 0 | 1 |
| Department of Human Genetics, Hannover Medical School | 1 | 0 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 1 | 0 | 0 | 0 | 0 | 1 |