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 |
|---|---|---|---|---|---|---|
| 29 | 34 | 24 | 9 | 0 | 19 | 99 |
Gene and significance breakdown #
Total genes and gene combinations: 9
| Gene or gene combination | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| BRAF | 19 | 22 | 7 | 1 | 12 | 52 |
| KRAS | 1 | 1 | 10 | 5 | 0 | 17 |
| MAP2K1 | 5 | 7 | 0 | 1 | 4 | 13 |
| MAP2K2 | 4 | 4 | 0 | 1 | 3 | 9 |
| MAP2K1, SNAPC5 | 0 | 0 | 4 | 0 | 0 | 4 |
| KRAS, LOC130007561 | 0 | 0 | 1 | 0 | 0 | 1 |
| LOC130057340, MAP2K1 | 0 | 0 | 0 | 1 | 0 | 1 |
| PTPN11 | 0 | 0 | 1 | 0 | 0 | 1 |
| RIT1 | 0 | 0 | 1 | 0 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 10
| Submitter | pathogenic | likely pathogenic | uncertain significance | likely benign | not provided | total |
|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 12 | 20 | 0 | 0 | 0 | 32 |
| Illumina Laboratory Services, Illumina | 0 | 0 | 19 | 8 | 0 | 27 |
| Women's Health and Genetics/Laboratory Corporation of America, LabCorp | 15 | 3 | 0 | 0 | 0 | 18 |
| Service de Génétique Moléculaire, Hôpital Robert Debré | 0 | 12 | 3 | 1 | 0 | 16 |
| ClinGen RASopathy Variant Curation Expert Panel | 13 | 3 | 0 | 0 | 0 | 16 |
| GeneReviews | 0 | 0 | 0 | 0 | 14 | 14 |
| GenomeConnect - CFC International | 0 | 0 | 0 | 0 | 7 | 7 |
| Blueprint Genetics | 1 | 1 | 1 | 0 | 0 | 3 |
| Medical Genetic Institute of Henan Province, Henan Provincial People’s Hospital | 1 | 0 | 0 | 0 | 0 | 1 |
| St. Jude Molecular Pathology, St. Jude Children's Research Hospital | 0 | 0 | 1 | 0 | 0 | 1 |