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 |
|---|---|---|---|---|---|---|
| 7 | 5 | 86 | 30 | 46 | 1 | 171 |
Gene and significance breakdown #
Total genes and gene combinations: 1
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| NLRP3 | 7 | 5 | 86 | 30 | 46 | 1 | 171 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 37 | 9 | 45 | 0 | 91 |
| Fulgent Genetics, Fulgent Genetics | 2 | 1 | 42 | 22 | 1 | 0 | 68 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 0 | 0 | 7 | 0 | 0 | 0 | 7 |
| OMIM | 3 | 0 | 0 | 0 | 0 | 0 | 3 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 3 | 0 | 3 |
| Baylor Genetics | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| GenomeConnect, ClinGen | 0 | 0 | 0 | 0 | 0 | 1 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| University of Washington Department of Laboratory Medicine, University of Washington | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Zotz-Klimas Genetics Lab, MVZ Zotz Klimas | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| 3billion | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili | 0 | 1 | 0 | 0 | 0 | 0 | 1 |