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 |
|---|---|---|---|---|---|
| 1 | 1 | 4 | 2 | 0 | 8 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| SLC9A9 | 1 | 1 | 4 | 2 | 8 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | total |
|---|---|---|---|---|---|
| Centre for Medical Genetics, Mumbai | 0 | 0 | 0 | 1 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 0 | 1 | 0 | 1 |
| Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics | 0 | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 1 |
| Institute of Immunology and Genetics Kaiserslautern | 0 | 1 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 1 |
| OMIM | 1 | 0 | 0 | 0 | 1 |