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 |
|---|---|---|---|---|---|
| 7 | 1 | 9 | 1 | 3 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| FKRP | 7 | 1 | 9 | 1 | 3 | 21 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 3 | 1 | 3 | 7 |
| OMIM | 4 | 0 | 0 | 0 | 0 | 4 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 3 | 0 | 0 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 2 | 0 | 0 | 0 | 0 | 2 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Phosphorus, Inc. | 0 | 0 | 1 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 0 | 1 |
| Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare | 0 | 1 | 0 | 0 | 0 | 1 |
| Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |