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 | 11 | 8 | 1 | 0 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CCDC8 | 4 | 11 | 8 | 1 | 22 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 1 | 1 | 5 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 2 | 2 | 0 | 4 |
| Baylor Genetics | 0 | 1 | 2 | 0 | 3 |
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 2 | 0 | 0 | 2 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 1 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Division of Medical Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi | 0 | 0 | 1 | 0 | 1 |
| Dr.Nikuei Genetic Center | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics Laboratory, Motol Hospital | 0 | 1 | 0 | 0 | 1 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 1 |