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 |
|---|---|---|---|---|---|---|
| 6 | 5 | 65 | 15 | 2 | 1 | 90 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| GATM | 6 | 5 | 62 | 13 | 2 | 1 | 85 |
| GATM, LOC130056991 | 0 | 0 | 2 | 2 | 0 | 0 | 4 |
| EHHADH | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 2 | 59 | 15 | 0 | 0 | 78 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 0 | 4 |
| 3billion | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 2 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 2 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Metabolism and Integrative Biology, Fudan University | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 0 | 1 | 0 | 0 | 0 | 1 |