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 |
|---|---|---|---|---|---|
| 12 | 15 | 42 | 8 | 18 | 92 |
Gene and significance breakdown #
Total genes and gene combinations: 2
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| PNPLA1 | 11 | 15 | 42 | 8 | 18 | 91 |
| KCNQ2 | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 14
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| Illumina Laboratory Services, Illumina | 0 | 0 | 37 | 7 | 17 | 61 |
| OMIM | 6 | 0 | 0 | 0 | 0 | 6 |
| Uitto Lab, Thomas Jefferson University | 1 | 4 | 1 | 0 | 0 | 6 |
| Genome-Nilou Lab | 0 | 0 | 0 | 0 | 6 | 6 |
| Unité de Différenciation Epithéliale et Auto-Immunité Rhumatoïde, INSERM - Université Paul Sabatier | 0 | 5 | 0 | 0 | 0 | 5 |
| Neuberg Centre For Genomic Medicine, NCGM | 1 | 3 | 1 | 0 | 0 | 5 |
| 3billion | 0 | 1 | 1 | 1 | 0 | 3 |
| Narges Medical Genetic and Prenatal Diagnosis Lab | 2 | 0 | 1 | 0 | 0 | 3 |
| Fulgent Genetics, Fulgent Genetics | 0 | 0 | 0 | 1 | 0 | 1 |
| Genomic Research Center, Shahid Beheshti University of Medical Sciences | 0 | 0 | 1 | 0 | 0 | 1 |
| Kamineni Academy of Medical Sciences & Research Centre, Kamineni Hospitals | 1 | 0 | 0 | 0 | 0 | 1 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 0 | 1 | 0 | 0 | 0 | 1 |
| Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology | 0 | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 1 | 0 | 0 | 0 | 0 | 1 |