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 |
|---|---|---|---|---|---|---|
| 39 | 6 | 11 | 23 | 21 | 1 | 98 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| TCOF1 | 27 | 3 | 10 | 23 | 21 | 1 | 83 |
| POLR1C | 5 | 3 | 1 | 0 | 0 | 0 | 8 |
| POLR1D | 7 | 0 | 0 | 0 | 0 | 0 | 7 |
Submitter and significance breakdown #
Total submitters: 11
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Invitae | 15 | 2 | 6 | 4 | 16 | 0 | 43 |
| Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust | 0 | 0 | 2 | 19 | 5 | 0 | 26 |
| OMIM | 23 | 0 | 0 | 0 | 0 | 0 | 23 |
| Genetic Services Laboratory, University of Chicago | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Genomic Research Center,Shahid Beheshti University of Medical Sciences | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Illumina Clinical Services Laboratory,Illumina | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| SIB Swiss Institute of Bioinformatics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles | 1 | 0 | 0 | 0 | 0 | 0 | 1 |