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 |
|---|---|---|---|---|---|
| 32 | 6 | 61 | 16 | 12 | 124 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| D2HGDH | 11 | 2 | 49 | 16 | 10 | 87 |
| L2HGDH | 11 | 1 | 6 | 0 | 1 | 19 |
| IDH2 | 2 | 2 | 3 | 0 | 1 | 7 |
| SLC25A1 | 7 | 1 | 0 | 0 | 0 | 7 |
| DMAC2L, L2HGDH | 0 | 0 | 1 | 0 | 0 | 1 |
| GJB1 | 0 | 0 | 1 | 0 | 0 | 1 |
| IDH2, IDH2-DT | 0 | 0 | 1 | 0 | 0 | 1 |
| L2HGDH, LINC01588, LINC01599, LOC100506499, SOS2, VCPKMT | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Clinical Services Laboratory,Illumina | 0 | 0 | 42 | 16 | 8 | 66 |
| OMIM | 22 | 0 | 0 | 0 | 0 | 22 |
| Invitae | 4 | 1 | 16 | 0 | 1 | 22 |
| Genetic Services Laboratory, University of Chicago | 6 | 2 | 3 | 0 | 0 | 11 |
| Mendelics | 0 | 1 | 0 | 0 | 3 | 4 |
| Fulgent Genetics,Fulgent Genetics | 1 | 0 | 2 | 0 | 0 | 3 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 1 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |