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 |
|---|---|---|---|---|---|---|
| 10 | 3 | 1 | 0 | 39 | 1 | 52 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| ANO5 | 10 | 3 | 1 | 39 | 1 | 52 |
Submitter and significance breakdown #
Total submitters: 12
| Submitter | pathogenic | likely pathogenic | uncertain significance | benign | not provided | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 39 | 0 | 39 |
| Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München | 4 | 0 | 0 | 0 | 0 | 4 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 3 | 0 | 0 | 0 | 0 | 3 |
| Laboratory of Medical Genetics, National & Kapodistrian University of Athens | 1 | 1 | 0 | 0 | 0 | 2 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 1 |
| GeneReviews | 0 | 0 | 0 | 0 | 1 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 1 | 0 | 0 | 0 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 1 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |