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 |
|---|---|---|---|---|---|
| 0 | 0 | 8 | 13 | 9 | 25 |
Condition and significance breakdown #
Total conditions: 7
| Condition | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| not specified | 2 | 9 | 4 | 13 |
| not provided | 0 | 4 | 4 | 7 |
| KRAS-related disorder | 0 | 4 | 0 | 4 |
| Noonan syndrome | 4 | 0 | 0 | 4 |
| Noonan syndrome and Noonan-related syndrome | 2 | 0 | 0 | 2 |
| Cardio-facio-cutaneous syndrome | 1 | 0 | 0 | 1 |
| RASopathy | 0 | 0 | 1 | 1 |
Submitter and significance breakdown #
Total submitters: 8
| Submitter | uncertain significance | likely benign | benign | total |
|---|---|---|---|---|
| Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine | 2 | 8 | 1 | 11 |
| GeneDx | 0 | 1 | 5 | 6 |
| CeGaT Center for Human Genetics Tuebingen | 0 | 3 | 2 | 5 |
| PreventionGenetics, part of Exact Sciences | 0 | 4 | 0 | 4 |
| Illumina Laboratory Services, Illumina | 4 | 0 | 0 | 4 |
| Genome Diagnostics Laboratory, The Hospital for Sick Children | 2 | 0 | 0 | 2 |
| ClinGen RASopathy Variant Curation Expert Panel | 0 | 0 | 1 | 1 |
| Breakthrough Genomics, Breakthrough Genomics | 0 | 1 | 0 | 1 |