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 | not provided | total |
|---|---|---|---|---|---|---|
| 7 | 6 | 10 | 1 | 1 | 1 | 20 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| FARS2 | 3 | 3 | 5 | 0 | 1 | 0 | 10 |
| FARS2, LOC126859565 | 3 | 2 | 5 | 0 | 0 | 1 | 8 |
| FARS2, LOC101927950, LOC126859568, LOC129995681, LOC129995682 | 1 | 1 | 0 | 0 | 0 | 0 | 1 |
| FARS2, LOC129995672, LYRM4 | 0 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 0 | 0 | 6 |
| Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine | 1 | 4 | 1 | 0 | 0 | 0 | 6 |
| Baylor Genetics | 1 | 0 | 2 | 0 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Institute of Human Genetics, University of Wuerzburg | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Department of Neurology and Neurophysiology, Children's University Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 0 | 0 | 1 | 0 | 0 | 0 | 1 |