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 | other | not provided | total |
|---|---|---|---|---|---|---|---|
| 1 | 5 | 8 | 4 | 2 | 2 | 3 | 24 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | not provided | total |
|---|---|---|---|---|---|---|---|---|
| HTT | 0 | 1 | 6 | 2 | 1 | 2 | 0 | 12 |
| HTT, LOC109461479, LOC129929027 | 1 | 4 | 2 | 2 | 1 | 0 | 3 | 12 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | other | not provided | total |
|---|---|---|---|---|---|---|---|---|
| American College of Medical Genetics and Genomics (ACMG) | 1 | 0 | 0 | 0 | 1 | 2 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 3 | 1 | 0 | 0 | 0 | 0 | 4 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 3 | 0 | 0 | 0 | 4 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 0 | 3 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 0 | 4 | 0 | 0 | 0 | 0 | 4 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Dubai Health Genomic Medicine Center, Dubai Health | 0 | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 0 | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 0 | 0 | 0 | 1 |