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 |
|---|---|---|---|---|---|
| 6 | 3 | 21 | 3 | 20 | 53 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| COL11A1 | 6 | 3 | 20 | 2 | 20 | 51 |
| COL11A1, LOC126805814 | 0 | 0 | 0 | 1 | 0 | 1 |
| PCDH12, RNF14 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 16 | 16 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 10 | 1 | 4 | 15 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 5 | 0 | 0 | 6 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 1 | 2 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital | 1 | 1 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 2 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 1 | 0 | 0 | 1 |
| Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn | 1 | 0 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 0 | 1 | 0 | 0 | 0 | 1 |