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 |
|---|---|---|---|---|---|
| 2 | 4 | 2 | 1 | 0 | 8 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| AIMP2 | 1 | 3 | 0 | 1 | 4 |
| AIMP2, EIF2AK1 | 1 | 1 | 1 | 0 | 3 |
| AIMP2, LOC129997917 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 1 |
| Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 |
| Illumina Laboratory Services, Illumina | 0 | 1 | 0 | 0 | 1 |
| Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences | 0 | 1 | 0 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 0 | 1 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 1 | 0 | 1 |