ClinGen Myeloid Malignancy Variant Curation Expert Panel, MyeloMalig_VCEP
FDA Recognized Database
General information
ClinGen Myeloid Malignancy Variant Curation Expert Panel, MyeloMalig_VCEP
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/10034/
Organization ID: 507107
Bethesda
Maryland
United States - 20892
https://clinicalgenome.org/affiliation/10034/
Organization ID: 507107
Personnel
- Tilda Carlelycke, Coordinator
Phone: 7733438980
Email: tilda.carlelycke@northwestern.edu - Steven Harrison, Coordinator
Phone: 9168070421
Email: sharrison6@partners.org - Zachary Hattig, Variant scientist/curator
Phone: 7136472010
Email: zachhattig@gmail.com
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 1648
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC130066597 | 1 | Apr 3, 2025 |
| LOC130066606 | 2 | Sep 12, 2024 |
| LOC130066607 | 2 | Jul 17, 2024 |
| RUNX1 | 1645 | Jun 1, 2026 |
| RUNX1-AS1 | 301 | Jun 1, 2026 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 1565 | Jun 1, 2026 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 83 | May 2, 2025 |