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 |
|---|---|---|---|---|---|
| 13 | 3 | 5 | 2 | 1 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| NEUROG3 | 13 | 3 | 5 | 2 | 1 | 24 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| 3billion | 0 | 1 | 1 | 1 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 1 | 0 | 2 |
| Knight Diagnostic Laboratories, Oregon Health and Sciences University | 2 | 0 | 0 | 0 | 0 | 2 |
| Undiagnosed Diseases Network, NIH | 1 | 0 | 1 | 0 | 0 | 2 |
| Center of Excellence in Genomics and Precision Dentistry, Faculty of Dentistry, Chulalongkorn University | 2 | 0 | 0 | 0 | 0 | 2 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital | 0 | 1 | 0 | 0 | 0 | 1 |
| James R Lupski Laboratory, Baylor College Of Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Aleixo Muise Laboratory, Hospital For Sick Children | 0 | 1 | 0 | 0 | 0 | 1 |