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 | not provided | total |
|---|---|---|---|---|---|---|
| 5 | 3 | 8 | 0 | 1 | 1 | 16 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| KCNK9 | 4 | 3 | 7 | 1 | 1 | 14 |
| KCNK9, LOC124188239 | 0 | 0 | 1 | 0 | 0 | 1 |
| TRPM3 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 16
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 1 | 1 | 1 | 1 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 1 | 1 | 0 | 0 | 2 |
| GeneReviews | 2 | 0 | 0 | 0 | 0 | 2 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 1 | 0 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 1 | 1 | 0 | 0 | 2 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 0 | 1 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 1 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine | 0 | 1 | 0 | 0 | 0 | 1 |
| DASA | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 1 | 1 |
| Solve-RD Consortium | 0 | 1 | 0 | 0 | 0 | 1 |