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 |
|---|---|---|---|---|---|
| 3 | 16 | 4 | 0 | 0 | 23 |
Gene and significance breakdown #
Total genes and gene combinations: 19
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| ARMC9 | 0 | 2 | 0 | 2 |
| HYLS1, PUS3 | 0 | 2 | 0 | 2 |
| INTS1 | 0 | 0 | 2 | 2 |
| PIBF1 | 0 | 2 | 0 | 2 |
| BLTP1 | 0 | 1 | 0 | 1 |
| BRAF | 0 | 1 | 0 | 1 |
| CHN1 | 0 | 1 | 0 | 1 |
| DPH1 | 0 | 1 | 0 | 1 |
| DPYSL5 | 0 | 0 | 1 | 1 |
| KIF1A | 0 | 0 | 1 | 1 |
| KMT2D | 1 | 0 | 0 | 1 |
| MAGED2 | 0 | 1 | 0 | 1 |
| MID1 | 1 | 0 | 0 | 1 |
| PDGFRB | 0 | 1 | 0 | 1 |
| PPP1CB | 0 | 1 | 0 | 1 |
| SETD2 | 0 | 1 | 0 | 1 |
| TMEM47 | 0 | 1 | 0 | 1 |
| TUBA1A | 0 | 1 | 0 | 1 |
| WFS1 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 11 | 1 | 12 |
| Center for Personalized Medicine, Children's Hospital Los Angeles | 1 | 1 | 1 | 3 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 2 | 0 | 2 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 0 | 2 | 0 | 2 |
| New York Genome Center | 0 | 0 | 2 | 2 |
| Génétique des Maladies du Développement, Hospices Civils de Lyon | 1 | 0 | 0 | 1 |
| Department of Neonatology, Xingtai People's Hospital | 1 | 0 | 0 | 1 |