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 |
|---|---|---|---|---|---|
| 27 | 47 | 74 | 7 | 5 | 153 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| AIRE | 27 | 47 | 73 | 7 | 5 | 152 |
| AIRE, CFAP410, DNMT3L, ICOSLG, ITGB2, KRTAP10-1, KRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-2, KRTAP10-3, KRTAP10-4, KRTAP10-5, KRTAP10-6, KRTAP10-7, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, LRRC3, PFKL, PTTG1IP, SUMO3, TRPM2, TSPEAR, UBE2G2 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 11 | 6 | 53 | 2 | 3 | 75 |
| Counsyl | 11 | 38 | 17 | 3 | 0 | 69 |
| Integrated Genetics/Laboratory Corporation of America | 4 | 4 | 3 | 3 | 2 | 16 |
| OMIM | 9 | 0 | 0 | 0 | 0 | 9 |
| Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) | 0 | 4 | 0 | 0 | 0 | 4 |
| Mendelics | 1 | 0 | 1 | 0 | 1 | 3 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 1 | 0 | 0 | 0 | 2 |
| Fulgent Genetics,Fulgent Genetics | 0 | 1 | 0 | 0 | 0 | 1 |
| Department of Genetics,Sultan Qaboos University Hospital, Oman | 0 | 0 | 1 | 0 | 0 | 1 |