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 | not provided | total |
|---|---|---|---|---|---|---|
| 15 | 7 | 3 | 2 | 4 | 7 | 33 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| ECM1 | 15 | 7 | 3 | 2 | 4 | 7 | 33 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 1 | 1 | 1 | 2 | 4 | 0 | 9 |
| OMIM | 7 | 0 | 0 | 0 | 0 | 0 | 7 |
| GeneReviews | 0 | 0 | 0 | 0 | 0 | 7 | 7 |
| Medical Genetics Laboratory, Etlik City Hospital | 2 | 1 | 0 | 0 | 0 | 0 | 3 |
| Revvity Omics, Revvity | 0 | 2 | 0 | 0 | 0 | 0 | 2 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| 3billion | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center | 0 | 1 | 1 | 0 | 0 | 0 | 2 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 1 | 1 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Pars Genome Lab | 1 | 0 | 0 | 0 | 0 | 0 | 1 |