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 |
|---|---|---|---|---|---|
| 8 | 0 | 8 | 2 | 0 | 18 |
Gene and significance breakdown #
Total genes and gene combinations: 5
| Gene or gene combination | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| HNF4A | 1 | 6 | 0 | 7 |
| EHHADH | 1 | 1 | 2 | 4 |
| GATM | 4 | 0 | 0 | 4 |
| SLC34A1 | 1 | 1 | 0 | 2 |
| NDUFAF6 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|
| OMIM | 8 | 0 | 0 | 8 |
| Fulgent Genetics,Fulgent Genetics | 1 | 2 | 0 | 3 |
| Service de Génétique Moléculaire,Hôpital Robert Debré | 0 | 0 | 2 | 2 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 0 | 2 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 1 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City | 0 | 1 | 0 | 1 |
| Johns Hopkins Genomics, Johns Hopkins University | 0 | 1 | 0 | 1 |
| Sydney Genome Diagnostics,Children's Hospital Westmead | 1 | 0 | 0 | 1 |