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 |
|---|---|---|---|---|---|---|
| 3 | 0 | 2 | 2 | 2 | 1 | 8 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| TSPAN7 | 3 | 2 | 2 | 2 | 1 | 8 |
Submitter and significance breakdown #
Total submitters: 9
| Submitter | pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| OMIM | 2 | 1 | 0 | 0 | 0 | 3 |
| ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories | 0 | 0 | 0 | 1 | 0 | 1 |
| Mendelics | 0 | 1 | 0 | 0 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Equipe Genetique des Anomalies du Developpement, Université de Bourgogne | 0 | 0 | 1 | 0 | 0 | 1 |
| Genome-Nilou Lab | 0 | 0 | 0 | 1 | 0 | 1 |
| Pediatric Genetics Clinic, Sheba Medical Center | 1 | 0 | 0 | 0 | 0 | 1 |
| GenomeConnect - Brain Gene Registry | 0 | 0 | 0 | 0 | 1 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 1 | 0 | 0 | 0 | 1 |