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 |
|---|---|---|---|---|---|---|
| 49 | 6 | 20 | 38 | 45 | 1 | 154 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| TCOF1 | 49 | 6 | 20 | 38 | 45 | 1 | 154 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Invitae | 34 | 4 | 14 | 18 | 39 | 0 | 109 |
| Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust | 0 | 0 | 2 | 19 | 5 | 0 | 26 |
| OMIM | 11 | 0 | 0 | 0 | 0 | 0 | 11 |
| Mendelics | 2 | 0 | 1 | 1 | 1 | 0 | 5 |
| Johns Hopkins Genomics,Johns Hopkins University | 3 | 0 | 1 | 1 | 0 | 0 | 5 |
| Genetic Services Laboratory,University of Chicago | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Autoinflammatory diseases unit,CHU de Montpellier | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics,Klinikum rechts der Isar | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |