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 |
|---|---|---|---|---|---|
| 2 | 4 | 4 | 1 | 1 | 11 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CABP2 | 2 | 4 | 4 | 1 | 1 | 11 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 0 | 3 |
| Revvity Omics, Revvity | 1 | 1 | 0 | 0 | 0 | 2 |
| Laboratory of Prof. Karen Avraham, Tel Aviv University | 2 | 0 | 0 | 0 | 0 | 2 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 0 | 1 | 0 | 0 | 2 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 1 |
| Intergen, Intergen Genetics and Rare Diseases Diagnosis Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Ulm | 0 | 1 | 0 | 0 | 0 | 1 |
| Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Statistical Genetics, Columbia University | 1 | 0 | 0 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetics Laboratory, Department of Biology, Semnan University | 0 | 1 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Molecular Diagnostics Lab, Aalborg University Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 1 |