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 |
|---|---|---|---|---|---|
| 4 | 1 | 43 | 45 | 1 | 94 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| KAT6B | 4 | 1 | 43 | 45 | 1 | 94 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 35 | 44 | 1 | 80 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 4 | 0 | 0 | 4 |
| New York Genome Center | 0 | 0 | 3 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 0 | 0 | 1 | 0 | 0 | 1 |
| University of Washington Center for Mendelian Genomics, University of Washington | 0 | 1 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 0 | 1 | 0 | 1 |
| Department Of Human Genetics, Institute Of Clinical And Translational Research, Biomedical Research Center, Slovak Academy Of Sciences | 1 | 0 | 0 | 0 | 0 | 1 |