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 |
|---|---|---|---|---|---|
| 27 | 9 | 8 | 5 | 2 | 48 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| SDHB | 26 | 9 | 8 | 5 | 2 | 47 |
| PADI2, SDHB | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Counsyl | 1 | 2 | 5 | 5 | 1 | 14 |
| OMIM | 12 | 0 | 0 | 0 | 0 | 12 |
| Center for Human Genetics, Inc,Center for Human Genetics, Inc | 8 | 1 | 1 | 0 | 0 | 10 |
| Invitae | 3 | 4 | 0 | 0 | 0 | 7 |
| Centre for Mendelian Genomics,University Medical Centre Ljubljana | 3 | 0 | 1 | 0 | 0 | 4 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 2 | 0 | 1 | 3 |
| Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia | 1 | 0 | 0 | 0 | 1 | 2 |
| Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine | 2 | 0 | 0 | 0 | 0 | 2 |
| Biesecker Lab/Clinical Genomics Section,National Institutes of Health | 0 | 1 | 0 | 0 | 0 | 1 |
| Genetic Services Laboratory,University of Chicago | 0 | 1 | 0 | 0 | 0 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 0 | 1 |
| UCLA Clinical Genomics Center, UCLA | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Division of Medical Genetics, University of Washington | 1 | 0 | 0 | 0 | 0 | 1 |