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 |
|---|---|---|---|---|---|
| 6 | 4 | 55 | 10 | 25 | 97 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|---|---|
| RAF1 | 6 | 4 | 52 | 10 | 24 | 93 |
| MKRN2, RAF1 | 0 | 0 | 2 | 0 | 1 | 3 |
| LOC129389024, LOC129936177, LOC129936178, LOC129936179, LOC129936180, LOC129936181, LOC129936182, LOC129936183, LOC129936184, LOC129936185, RAF1, TMEM40 | 0 | 0 | 1 | 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 | 35 | 4 | 24 | 63 |
| Fulgent Genetics, Fulgent Genetics | 3 | 0 | 14 | 4 | 1 | 22 |
| Mendelics | 1 | 2 | 1 | 0 | 1 | 5 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 1 | 1 | 3 | 0 | 0 | 4 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 3 | 0 | 0 | 3 |
| New York Genome Center | 0 | 0 | 3 | 0 | 0 | 3 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 1 | 0 | 1 | 0 | 0 | 2 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 1 | 0 | 1 | 0 | 0 | 2 |
| OMIM | 2 | 0 | 0 | 0 | 0 | 2 |
| 3billion | 0 | 0 | 0 | 1 | 0 | 1 |
| Center for Molecular Medicine, Children’s Hospital of Fudan University | 0 | 1 | 0 | 0 | 0 | 1 |
| Obstetrics Unit, Tongji Hospital, Huazhong University of Science and Technology | 1 | 0 | 0 | 0 | 0 | 1 |
| Pediatric/Medical Genetics, Ministry of Health, Qatif Central Hospital | 0 | 0 | 1 | 0 | 0 | 1 |
| The Genetics Institute, Rambam Health Care Campus | 0 | 0 | 0 | 1 | 0 | 1 |