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 | risk factor | total |
|---|---|---|---|---|---|---|
| 15 | 3 | 20 | 8 | 0 | 1 | 46 |
Gene and significance breakdown #
Total genes and gene combinations: 8
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|---|
| HRAS, LRRC56 | 7 | 2 | 12 | 4 | 0 | 24 |
| SRGAP1 | 2 | 0 | 2 | 1 | 1 | 6 |
| HABP2 | 0 | 0 | 3 | 2 | 0 | 5 |
| FOXE1 | 1 | 1 | 1 | 1 | 0 | 4 |
| MINPP1 | 2 | 0 | 0 | 0 | 0 | 2 |
| NRAS | 1 | 0 | 1 | 0 | 0 | 2 |
| PTEN | 1 | 0 | 1 | 0 | 0 | 2 |
| BRAF | 1 | 0 | 0 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | risk factor | total |
|---|---|---|---|---|---|---|
| Fulgent Genetics, Fulgent Genetics | 4 | 0 | 15 | 8 | 0 | 27 |
| OMIM | 8 | 0 | 0 | 0 | 1 | 9 |
| Juno Genomics, Hangzhou Juno Genomics, Inc | 2 | 2 | 0 | 0 | 0 | 4 |
| Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre | 0 | 1 | 1 | 0 | 0 | 2 |
| Institute of Human Genetics, University of Wuerzburg | 1 | 0 | 0 | 0 | 0 | 1 |
| Centre for Mendelian Genomics, University Medical Centre Ljubljana | 0 | 0 | 1 | 0 | 0 | 1 |
| Institute of Human Genetics, University Hospital of Duesseldorf | 0 | 0 | 1 | 0 | 0 | 1 |
| Department of Pathology and Laboratory Medicine, Sinai Health System | 0 | 0 | 1 | 0 | 0 | 1 |
| Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago | 1 | 0 | 0 | 0 | 0 | 1 |
| Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein | 0 | 0 | 1 | 0 | 0 | 1 |