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 |
|---|---|---|---|---|---|
| 3 | 1 | 9 | 1 | 1 | 15 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PDZD9, UQCRC2 | 3 | 1 | 7 | 1 | 1 | 13 |
| UQCRC2 | 0 | 0 | 2 | 0 | 0 | 2 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Baylor Genetics | 0 | 0 | 3 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 1 | 0 | 2 | 0 | 0 | 3 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| Genetic and Metabolic Disease Program, Children's Medical Center Research Institute, UT Southwestern Medical Center at Dallas | 0 | 0 | 2 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 2 | 0 | 0 | 2 |
| Laboratory for Study of Mitochondrial Disorders, Charles University, First Faculty of Medicine - General University Hospital in Prague | 1 | 0 | 0 | 0 | 0 | 1 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 1 | 0 | 0 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 1 | 1 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neonatal Research Center, Shiraz University of Medical Science | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 1 |