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 |
|---|---|---|---|---|---|
| 3 | 1 | 4 | 1 | 56 | 65 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| ABCC6 | 3 | 1 | 4 | 1 | 56 | 65 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 56 | 57 |
| Centogene AG - the Rare Disease Company | 1 | 0 | 1 | 0 | 0 | 2 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 1 |
| DASA | 1 | 0 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Neuberg Centre For Genomic Medicine, NCGM | 0 | 0 | 1 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 1 |
| Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |