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 |
|---|---|---|---|---|---|
| 1 | 0 | 66 | 33 | 3 | 103 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| KANK1 | 0 | 62 | 33 | 3 | 98 |
| KANK1, LOC126860554 | 0 | 4 | 0 | 0 | 4 |
| KANK1, LOC124210605, LOC126860553, LOC126860554, LOC129390062 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 0 | 53 | 33 | 2 | 88 |
| Baylor Genetics | 0 | 5 | 0 | 0 | 5 |
| Revvity Omics, Revvity | 0 | 3 | 0 | 0 | 3 |
| OMIM | 1 | 0 | 0 | 0 | 1 |
| Division of Human Genetics, Children's Hospital of Philadelphia | 0 | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 0 | 1 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 1 | 0 | 0 | 1 |
| TIDEX, University of British Columbia | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 1 | 0 | 0 | 1 |