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 |
|---|---|---|---|---|---|---|
| 11 | 3 | 5 | 1 | 0 | 1 | 21 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| SURF1 | 11 | 3 | 5 | 1 | 1 | 21 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 5 | 2 | 3 | 1 | 0 | 11 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 1 |
| Genetic Services Laboratory, University of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 1 | 0 | 0 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 1 | 1 |
| DASA | 1 | 0 | 0 | 0 | 0 | 1 |
| Neuberg Supratech Reference Laboratories Pvt Ltd, Neuberg Centre for Genomic Medicine | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 1 | 0 | 0 | 0 | 0 | 1 |