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 | 6 | 71 | 31 | 14 | 2 | 128 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| BRAF | 7 | 6 | 62 | 30 | 13 | 2 | 117 |
| BRAF, LOC126860202 | 0 | 0 | 8 | 1 | 1 | 0 | 10 |
| BRAF, LOC129999507 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 13
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 2 | 4 | 48 | 28 | 1 | 0 | 83 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 21 | 3 | 13 | 0 | 37 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 1 | 1 | 1 | 0 | 0 | 0 | 3 |
| GenomeConnect - CFC International | 0 | 0 | 0 | 0 | 0 | 2 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 0 | 2 |
| Baylor Genetics | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genetics Laboratory, University Hospital Schleswig-Holstein | 0 | 1 | 0 | 0 | 0 | 0 | 1 |
| Clinical Genomics Laboratory, Washington University in St. Louis | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen | 1 | 0 | 0 | 0 | 0 | 0 | 1 |
| MGZ Medical Genetics Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| New York Genome Center | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
| Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology | 1 | 0 | 0 | 0 | 0 | 0 | 1 |