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 |
|---|---|---|---|---|---|
| 21 | 4 | 38 | 5 | 7 | 74 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| CTSC | 18 | 4 | 30 | 4 | 6 | 61 |
| CTSC, LOC130006572 | 3 | 0 | 8 | 1 | 1 | 13 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 36 | 5 | 7 | 48 |
| OMIM | 12 | 0 | 0 | 0 | 0 | 12 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 2 | 1 | 0 | 0 | 0 | 3 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 1 | 1 | 0 | 0 | 3 |
| State Key Laboratory Of Oral Diseases, Sichuan University | 2 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Medical Molecular Genetics Department, National Research Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University | 0 | 0 | 1 | 0 | 0 | 1 |
| Faculty of Allied and Health Sciences, Imperial College of Business Studies | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 1 | 0 | 0 | 0 | 0 | 1 |
| Palindrome, Gene Kavoshgaran Aria | 1 | 0 | 0 | 0 | 0 | 1 |
| Medical Genetics Research Center, Mashhad University of Medical Sciences | 0 | 1 | 0 | 0 | 0 | 1 |