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 | 5 | 3 | 0 | 1 | 14 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| CTNND1, TMX2-CTNND1 | 6 | 5 | 3 | 1 | 14 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | total |
|---|---|---|---|---|---|
| OMIM | 3 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 1 | 0 | 1 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 1 | 0 | 2 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 1 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 0 | 0 | 1 |
| Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn | 0 | 1 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 0 | 0 | 1 | 0 | 1 |
| Obstetrics And Gynecology, 901th Hospital Of The Joint Service Of The People's Liberation Army | 1 | 0 | 0 | 0 | 1 |