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 |
|---|---|---|---|---|---|
| 18 | 3 | 11 | 0 | 2 | 34 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| CDK10 | 16 | 3 | 9 | 2 | 30 |
| CDK10, LINC02166 | 2 | 0 | 2 | 0 | 4 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University | 13 | 0 | 1 | 0 | 14 |
| Baylor Genetics | 0 | 0 | 8 | 0 | 8 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Revvity Omics, Revvity | 0 | 0 | 2 | 0 | 2 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 2 | 0 | 0 | 0 | 2 |
| Genome-Nilou Lab | 0 | 0 | 0 | 2 | 2 |
| Institute of Human Genetics, University of Goettingen | 0 | 1 | 0 | 0 | 1 |
| Daryl Scott Lab, Baylor College of Medicine | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |
| Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 1 | 0 | 0 | 0 | 1 |
| Molecular Genetics Lab, CHRU Brest | 1 | 0 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 1 | 0 | 0 | 0 | 1 |
| Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) | 1 | 0 | 0 | 0 | 1 |