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
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 |