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 |
|---|---|---|---|---|---|
| 10 | 6 | 6 | 1 | 0 | 22 |
Gene and significance breakdown #
Total genes and gene combinations: 4
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| CCNO | 5 | 5 | 5 | 1 | 15 |
| CCNO, LOC129993895 | 4 | 0 | 1 | 0 | 5 |
| CENPF | 0 | 1 | 0 | 0 | 1 |
| GCDH | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| OMIM | 6 | 0 | 0 | 0 | 6 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 2 | 1 | 1 | 0 | 4 |
| Baylor Genetics | 0 | 1 | 2 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 2 | 1 | 0 | 0 | 3 |
| Neuberg Centre For Genomic Medicine, NCGM | 2 | 1 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 1 | 0 | 1 | 0 | 2 |
| 3billion, Medical Genetics | 2 | 0 | 0 | 0 | 2 |
| Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital | 2 | 0 | 0 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 1 |
| Mayo Clinic Laboratories, Mayo Clinic | 0 | 0 | 0 | 1 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 0 | 0 | 1 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 1 |
| Lifecell International Pvt. Ltd | 0 | 1 | 0 | 0 | 1 |