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 | risk factor | total |
|---|---|---|---|---|---|---|
| 0 | 0 | 6 | 1 | 0 | 2 | 9 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|
| NSMF | 4 | 1 | 1 | 6 |
| LOC126860797, NSMF | 2 | 0 | 1 | 3 |
Submitter and significance breakdown #
Total submitters: 7
| Submitter | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|
| OMIM | 0 | 0 | 2 | 2 |
| Fulgent Genetics, Fulgent Genetics | 1 | 1 | 0 | 2 |
| Revvity Omics, Revvity | 1 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University of Leipzig Medical Center | 1 | 0 | 0 | 1 |
| Genetics Department, Polish Mother's Memorial Hospital Research Institute | 1 | 0 | 0 | 1 |
| MVZ Medizinische Genetik Mainz | 1 | 0 | 0 | 1 |