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 |
|---|---|---|---|---|---|
| 25 | 9 | 2 | 1 | 3 | 40 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| COL2A1 | 25 | 9 | 2 | 1 | 3 | 40 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Mendelics | 4 | 4 | 1 | 0 | 3 | 12 |
| OMIM | 10 | 0 | 0 | 0 | 0 | 10 |
| Center for Human Genetics, Inc | 4 | 4 | 1 | 0 | 0 | 9 |
| GeneReviews | 2 | 0 | 0 | 0 | 0 | 2 |
| Institute of Human Genetics,Klinikum rechts der Isar | 1 | 0 | 0 | 0 | 0 | 1 |
| HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology | 1 | 0 | 0 | 0 | 0 | 1 |
| Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare | 1 | 0 | 0 | 0 | 0 | 1 |
| Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues | 0 | 1 | 0 | 0 | 0 | 1 |
| MVZ Praenatalmedizin und Genetik Nuernberg | 0 | 0 | 0 | 1 | 0 | 1 |
| Undiagnosed Diseases Network,NIH | 1 | 0 | 0 | 0 | 0 | 1 |
| Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Diagnostics Laboratory,M Health: University of Minnesota | 1 | 0 | 0 | 0 | 0 | 1 |