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 |
|---|---|---|---|---|---|
| 8 | 1 | 63 | 3 | 5 | 79 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| LHFPL5 | 8 | 1 | 60 | 3 | 5 | 76 |
| LHFPL5, LOC129996260 | 0 | 0 | 3 | 0 | 0 | 3 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 60 | 3 | 5 | 68 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 4 | 0 | 0 | 4 |
| King Laboratory, University of Washington | 1 | 1 | 0 | 0 | 0 | 2 |
| Revvity Omics, Revvity | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| National Institute on Deafness and Communication Disorders, National Institutes of Health | 1 | 0 | 0 | 0 | 0 | 1 |
| Hereditary Research Laboratory, Bethlehem University | 1 | 0 | 0 | 0 | 0 | 1 |
| Deafness Molecular Diagnostic Center, Chinese PLA General Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| Dr.Nikuei Genetic Center | 1 | 0 | 0 | 0 | 0 | 1 |