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 |
|---|---|---|---|---|---|
| 12 | 8 | 10 | 9 | 9 | 46 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SEC24D | 12 | 8 | 9 | 9 | 9 | 45 |
| LOC121725182, SEC24D | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 7 | 5 | 13 |
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 2 | 1 | 5 |
| Revvity Omics, Revvity | 0 | 1 | 4 | 0 | 0 | 5 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 4 | 4 |
| Institute of Human Genetics, Cologne University | 0 | 2 | 0 | 0 | 0 | 2 |
| Variantyx, Inc. | 1 | 1 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Clinical Biomedical Laboratory, Shriners Hospital For Children - Canada | 0 | 1 | 0 | 0 | 0 | 1 |
| Clinical Genetics and Genomics, Karolinska University Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Human Genetics, Medical Research Institute, Alexandria University | 1 | 0 | 0 | 0 | 0 | 1 |
| Dr.Nikuei Genetic Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 1 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 0 | 0 | 1 | 1 |
| Ozbek Human Genetics Laboratory, Izmir Biomedicine and Genome Center | 0 | 1 | 0 | 0 | 0 | 1 |