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 |
|---|---|---|---|---|---|
| 22 | 7 | 1 | 0 | 0 | 30 |
Gene and significance breakdown #
Total genes and gene combinations: 6
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| PHEX | 11 | 2 | 1 | 14 |
| PHEX, PTCHD1 | 8 | 2 | 0 | 10 |
| DMP1 | 1 | 1 | 0 | 2 |
| ENPP1 | 0 | 2 | 0 | 2 |
| FGF23 | 1 | 0 | 0 | 1 |
| WDR72 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 3
| Submitter | pathogenic | likely pathogenic | uncertain significance | total |
|---|---|---|---|---|
| Laboratory of Cyto-molecular Genetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS), New Delhi | 21 | 6 | 1 | 28 |
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 0 | 1 | 0 | 1 |
| Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India | 1 | 0 | 0 | 1 |