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 |
|---|---|---|---|---|---|
| 0 | 0 | 2 | 0 | 2 | 4 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | uncertain significance | benign | total |
|---|---|---|---|
| HS6ST1 | 1 | 2 | 3 |
| HS6ST1, LOC121725102 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 4
| Submitter | uncertain significance | benign | total |
|---|---|---|---|
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 1 |
| Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard | 0 | 1 | 1 |
| Genome-Nilou Lab | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 1 |