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 |
|---|---|---|---|---|---|
| 13 | 2 | 8 | 1 | 15 | 37 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| XYLT1 | 8 | 1 | 5 | 0 | 13 | 27 |
| LOC102723692, XYLT1 | 4 | 0 | 3 | 1 | 2 | 8 |
| LOC130058566, XYLT1 | 1 | 1 | 0 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 15 | 15 |
| OMIM | 11 | 0 | 0 | 0 | 0 | 11 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 2 | 1 | 0 | 3 |
| Baylor Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 0 | 0 | 1 | 1 |
| Dubai Health Genomic Medicine Center, Dubai Health | 0 | 1 | 0 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 0 | 0 | 1 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 1 | 0 | 0 | 0 | 0 | 1 |
| Zankl Lab, University of Sydney | 1 | 0 | 0 | 0 | 0 | 1 |