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 | 7 | 11 | 1 | 0 | 29 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| UGT1A, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9 | 12 | 7 | 11 | 1 | 28 |
| UGT1A1 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 3 | 6 | 1 | 10 |
| OMIM | 8 | 0 | 0 | 0 | 8 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 1 | 1 | 2 | 0 | 4 |
| Mendelics | 1 | 2 | 0 | 0 | 3 |
| 3billion | 2 | 0 | 1 | 0 | 3 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 1 |
| Centre for Inherited Metabolic Diseases, Karolinska University Hospital | 0 | 1 | 0 | 0 | 1 |
| Genetics and Molecular Pathology, SA Pathology | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 1 |
| Suma Genomics | 1 | 0 | 0 | 0 | 1 |
| Genetic Diagnostics Department, Viafet Genomics Laboratory | 1 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 0 | 0 | 1 | 0 | 1 |
| Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) | 0 | 0 | 1 | 0 | 1 |