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
- Zachary Hattig, Variant scientist/curator
Phone: 7136472010
Email: zachary.hattig@northwestern.edu - Xi Luo, Coordinator
Phone: (832) 824-4873
Email: xi.luo@bcm.edu - Mancy Shah, Coordinator
Phone: 720-217-2270
Email: mancyshah@bsd.uchicago.edu
Assertion criteria
Level: Expert Panel
Summary of submissions to ClinVar
Total submissions: 1429
Gene
| Gene | Submissions | Last Updated |
|---|---|---|
| LOC130066597 | 1 | Jul 17, 2024 |
| LOC130066606 | 2 | Sep 12, 2024 |
| LOC130066607 | 2 | Jul 17, 2024 |
| RUNX1 | 1426 | Jan 15, 2025 |
| RUNX1-AS1 | 247 | Jan 15, 2025 |
Condition
| Name | Submissions | Last Updated |
|---|---|---|
| Hereditary thrombocytopenia and hematologic cancer predisposition syndrome | 1337 | Jan 15, 2025 |
| Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 | 92 | Jan 15, 2025 |