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 |
|---|---|---|---|---|---|
| 17 | 9 | 38 | 8 | 6 | 73 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| GPI | 17 | 9 | 38 | 8 | 6 | 73 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 5 | 0 | 11 | 8 | 6 | 30 |
| Revvity Omics, Revvity | 4 | 3 | 22 | 0 | 0 | 29 |
| OMIM | 8 | 0 | 0 | 0 | 0 | 8 |
| Neuberg Centre For Genomic Medicine, NCGM | 2 | 1 | 1 | 0 | 0 | 4 |
| Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 3 |
| 3billion | 0 | 1 | 1 | 0 | 0 | 2 |
| Beijing Key Laboratry for Genetics of Birth Defects, Beijing Children's Hospital | 0 | 0 | 2 | 0 | 0 | 2 |
| Department of Endocrinology, The Children’s Hospital of Zhejiang University School of Medicine | 1 | 1 | 0 | 0 | 0 | 2 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 0 | 1 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| Watson Genetic Lab | 0 | 1 | 0 | 0 | 0 | 1 |