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 |
|---|---|---|---|---|---|
| 5 | 5 | 20 | 2 | 0 | 32 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| FLNC | 5 | 5 | 18 | 2 | 30 |
| ADCY5 | 0 | 0 | 1 | 0 | 1 |
| FRMD1 | 0 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 15
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Baylor Genetics | 1 | 3 | 3 | 0 | 7 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 5 | 0 | 5 |
| OMIM | 4 | 0 | 0 | 0 | 4 |
| Phosphorus, Inc. | 0 | 0 | 1 | 2 | 3 |
| Victorian Clinical Genetics Services, Murdoch Childrens Research Institute | 0 | 0 | 2 | 0 | 2 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 0 | 2 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 1 |
| Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin | 0 | 0 | 1 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 0 | 0 | 1 | 0 | 1 |
| Genomic Medicine Lab, University of California San Francisco | 0 | 0 | 1 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 1 |
| Molecular Genetics, Royal Melbourne Hospital | 0 | 0 | 1 | 0 | 1 |
| School of Medicine, Universitat de Girona | 0 | 0 | 1 | 0 | 1 |
| Inheritance Genetic Center | 0 | 1 | 0 | 0 | 1 |