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 |
|---|---|---|---|---|---|
| 1 | 2 | 397 | 352 | 40 | 785 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ZNF423 | 1 | 2 | 395 | 352 | 40 | 783 |
| ADCY7, BRD7, CNEP1R1, CYLD, HEATR3, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423 | 0 | 0 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 0 | 0 | 393 | 348 | 40 | 781 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 25 | 25 |
| Revvity Omics, Revvity | 0 | 0 | 9 | 0 | 0 | 9 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 4 | 3 | 0 | 7 |
| Baylor Genetics | 0 | 1 | 2 | 0 | 0 | 3 |
| Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center | 0 | 0 | 0 | 3 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 3 | 0 | 0 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome Diagnostics Laboratory, University Medical Center Utrecht | 0 | 0 | 0 | 0 | 1 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" | 0 | 0 | 1 | 0 | 0 | 1 |