ClinGen RASopathy Variant Curation Expert Panel, RAS-EP
FDA Recognized Database
General information
ClinGen RASopathy Variant Curation Expert Panel, RAS-EP
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/rasopathies-clinical-domain-working-group/rasopathies-variant-curation-expert-panel/
Organization ID: 506439
Bethesda
Maryland
United States - 20892
https://www.clinicalgenome.org/working-groups/clinical-domain/rasopathies-clinical-domain-working-group/rasopathies-variant-curation-expert-panel/
Organization ID: 506439
Expert panel documentation
Personnel
- Heather Mason-Suares, Contact
Phone: 617-768-8324
Email: hmason-suares@bwh.harvard.edu - Lisa Vincent, Contact
Phone: 202-476-6680
Email: lvincent@childrensnational.org
Assertion criteria
Level: Expert panel
Summary of submissions to ClinVar
Total submissions: 315
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRAF | 45 | Jul 24, 2020 |
| HRAS | 20 | Mar 6, 2020 |
| KRAS | 15 | Jul 24, 2020 |
| LOC126860202 | 2 | Apr 9, 2020 |
| LOC129933535 | 2 | Mar 6, 2020 |
| LOC130007561 | 1 | Mar 6, 2020 |
| LOC130063193 | 1 | Feb 25, 2019 |
| LRRC56 | 20 | Mar 6, 2020 |
| MAP2K1 | 25 | Jul 24, 2020 |
| MAP2K2 | 48 | Jul 24, 2020 |
| MKRN2 | 1 | Feb 25, 2019 |
| PTPN11 | 38 | Jul 24, 2020 |
| RAF1 | 42 | Jul 24, 2020 |
| SHOC2 | 17 | Mar 6, 2020 |
| SNAPC5 | 4 | Mar 6, 2020 |
| SOS1 | 65 | Jul 24, 2020 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardio-facio-cutaneous syndrome | 16 | Jul 15, 2019 |
| Costello syndrome | 6 | Jul 15, 2019 |
| Noonan syndrome | 24 | Jul 15, 2019 |
| Noonan syndrome and Noonan-related syndrome | 20 | Jul 15, 2019 |
| Noonan syndrome with multiple lentigines | 2 | Jul 15, 2019 |
| Noonan syndrome-like disorder with loose anagen hair 1 | 1 | Feb 25, 2019 |
| RASopathy | 246 | Jul 24, 2020 |