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 |
|---|---|---|---|---|---|
| 9 | 9 | 49 | 64 | 1 | 131 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| COL4A1 | 8 | 9 | 47 | 62 | 1 | 126 |
| COL4A1, LOC126861856 | 0 | 0 | 2 | 2 | 0 | 4 |
| KAT6B | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 1 | 3 | 45 | 64 | 1 | 114 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| 3billion | 0 | 2 | 1 | 0 | 0 | 3 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 1 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Goettingen | 0 | 0 | 1 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Molecular Medicine, Children’s Hospital of Fudan University | 1 | 0 | 0 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 1 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 0 | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |