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
- Marina DiStefano, Coordinator
Phone: 6177688555
Email: mdistefa@broadinstitute.org - Hannah Dziadzio, Coordinator
Phone: 6177688555
Email: hdziadzi@broadinstitute.org - Steven Harrison, Coordinator
Phone: 6177688269
Email: sharrison6@partners.org - Heather Mason-Suares, Contact
Phone: 617-768-8324
Email: hmason-suares@bwh.harvard.edu - Lisa Vincent, Contact
Phone: 202-476-6680
Email: lvincent@natera.com
Assertion criteria
Level: Expert panel
- ClinGen RASopathy ACMG Specifications BRAF V2.1.0
- ClinGen RASopathy ACMG Specifications HRAS V2.1.0
- ClinGen RASopathy ACMG Specifications KRAS V2.1.0
- ClinGen RASopathy ACMG Specifications LZTR1 V1.1.0
- ClinGen RASopathy ACMG Specifications MAP2K1 V2.1.0
- ClinGen RASopathy ACMG Specifications MAP2K2 V2.1.0
- ClinGen RASopathy ACMG Specifications MRAS V1.1.0
- ClinGen RASopathy ACMG Specifications NRAS V2.1.0
- ClinGen RASopathy ACMG Specifications PPP1CB V1.1.0
- ClinGen RASopathy ACMG Specifications PTPN11 V2.1.0
- ClinGen RASopathy ACMG Specifications RAF1 V2.1.0
- ClinGen RASopathy ACMG Specifications RIT1 V2.1.0
- ClinGen RASopathy ACMG Specifications RRAS2 V1.1.0
- ClinGen RASopathy ACMG Specifications SHOC2 V2.1.0
- ClinGen RASopathy ACMG Specifications SOS1 V2.1.0
- ClinGen RASopathy ACMG Specifications SOS2 V2.1.0
- ClinGen RASopathy ACMG Specifications v1
Summary of submissions to ClinVar
Total submissions: 337
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| BRAF | 45 | Oct 1, 2024 |
| HRAS | 20 | Oct 1, 2024 |
| KRAS | 15 | Oct 1, 2024 |
| LOC126860202 | 2 | Apr 9, 2020 |
| LOC129933535 | 2 | Mar 6, 2020 |
| LOC130007561 | 1 | Mar 6, 2020 |
| LOC130063193 | 1 | Feb 25, 2019 |
| LRRC56 | 20 | Oct 1, 2024 |
| LZTR1 | 4 | Sep 30, 2024 |
| MAP2K1 | 25 | Oct 1, 2024 |
| MAP2K2 | 48 | Oct 2, 2024 |
| MKRN2 | 1 | Feb 25, 2019 |
| MRAS | 3 | Oct 1, 2024 |
| NRAS | 3 | Oct 1, 2024 |
| PPP1CB | 3 | Oct 1, 2024 |
| PTPN11 | 38 | Oct 1, 2024 |
| RAF1 | 42 | Oct 1, 2024 |
| RIT1 | 3 | Oct 2, 2024 |
| RRAS2 | 3 | Oct 1, 2024 |
| SHOC2 | 17 | Oct 1, 2024 |
| SNAPC5 | 4 | Mar 6, 2020 |
| SOS1 | 65 | Oct 1, 2024 |
| SOS2 | 3 | Oct 1, 2024 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Cardio-facio-cutaneous syndrome | 12 | Jul 15, 2019 |
| Costello syndrome | 4 | Jul 15, 2019 |
| Noonan syndrome | 25 | Oct 1, 2024 |
| 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 | 273 | Oct 2, 2024 |