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 | 1 | 81 | 24 | 31 | 141 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PIK3CD | 4 | 1 | 80 | 24 | 31 | 140 |
| CENPS, CENPS-CORT, CLSTN1, CORT, CTNNBIP1, DFFA, KIF1B, LZIC, NMNAT1, PEX14, PGD, PIK3CD, RBP7, UBE4B | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Invitae | 1 | 1 | 78 | 24 | 29 | 133 |
| ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories | 0 | 0 | 1 | 0 | 8 | 9 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics,Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Medicine, University of Cambridge | 1 | 0 | 0 | 0 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Center of Genomic medicine, Geneva,University Hospital of Geneva | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 0 | 1 |
| SIB Swiss Institute of Bioinformatics | 1 | 0 | 0 | 0 | 0 | 1 |
| UOSD Laboratory of Genetics & Genomics of Rare Diseases,Istituto Giannina Gaslini | 0 | 0 | 1 | 0 | 0 | 1 |