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Myeloid Malignancy Variant Curation Expert Panel

Affiliated to Hereditary Cancer CDWG

Membership Documents

The Myeloid Malignancy Variant Curation Expert Panel (MM-VCEP) curates variants in genes associated with inherited risk for myeloid malignancies. Our panel considers variants in genes that cause life-long thrombocytopenia (e.g., RUNX1, ANKRD26, and ETV6) as well as those associated only with cancer risk (e.g., GATA2, DDX41 and CEBPA). The MM-VCEP has collaborated with ASH, and is currently supported by the National Cancer Institute. We aim to encourage standardized variant curation, which will improve variant reporting and facilitate optimal treatment of patients and their families.

View the criteria specifications for this VCEP in ClinGen's Criteria Specification Registry (CSpec).

View all variant classifications approved by this VCEP.

View the ClinVar submitter page for this VCEP.

Expert Panel Status

Step 1

Step 2

Step 3

Step 4

Define Group
Completed Jun. 2018

Develop Classification Rules
Completed Jan. 2019

Pilot Rules
Completed Jul. 2019

Expert Panel Approval
Completed Jul. 2019

Documents

Myeloid Malignancy Variant Curation Expert Panel COI
Conflict Of Interest (COI) - September 1, 2022

Myeloid Malignancy Variant Curation Expert Panel
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 2
Curation Activity Procedures - September 14, 2021 Archived Document

Myeloid Malignancy Variant Curation Expert Panel
How I Curate: Applying American Society Of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel Rules For RUNX1 Variant Curation For Germline Predisposition To Myeloid Malignancies
Publications - April 1, 2020

Myeloid Malignancy Variant Curation Expert Panel
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
Publications - October 22, 2019

Hereditary Cancer CDWG
ClinGen Myeloid Malignancy Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines Version 1
Curation Activity Procedures - July 10, 2019 Archived Document

Myeloid Malignancy Variant Curation Expert Panel

Expert Panel Membership

Membership spans many fields, including genetics, medical, academia, and industry.

Chairs

Lucy A. Godley, M.D., Ph.D.

David Wu, M.D., Ph.D.

Leadership

Lucy A. Godley, M.D., Ph.D.

Zach Hattig, MSc

Shruthi Mohan, PhD

Taylor Walker, M. Eng

David Wu, M.D., Ph.D.

Coordinators

Zach Hattig, MSc

Taylor Walker, M. Eng

Curators

Rishu Agarwal, MD, PhD

Nicole Altomare, MD

Khaliunaa Bayanbold, PhD

Cristina Bilbao, PhD

Ogze Birsoy, PhD, FACMG

Eddy Chew, MBBS, PhD

Hui-Lin Chin, MD

Natalie Deuitch, MS, CGC

Inge Govaerts, MD, PhD

Zach Hattig, MSc

Rachel Hendricks, BS

Claire Homan, PhD

Xiaolin Hu, PhD

Kinga Krawiec, MD

Vincent-Philippe Lavallée MD

Alessandro Liquori, PhD

Meghan Lundy, MS

Madhavi Maddali, MD DNB

Abbye McEwen, MD, PhD

Nikita Mehta, MS, CGC

Lourdes Mendez

Christine Lindsay Miller, PhD

Shruthi Mohan, PhD

Amagoia Ruiz Martin, MD

Marta Santiago Balsera, MD

Ilaria Scarpelli

Edith Sepulchre, MD

Mancy Shah, MSc

William Smith, MD

Maria Noel Spangenberg, MD

Piotr Strzalka, MD

Ryan Stubbins, MD, MSc

Kien Tran, PhD

Parvathy Venugopal PhD, MSc

Taylor Walker, M. Eng

Members

Rishu Agarwal, MD, PhD

Anupriya Agarwal, Ph.D.

Khaliunaa Bayanbold, PhD

Alison Bertuch, M.D., Ph.D.

Cristina Bilbao, PhD

Ogze Birsoy, PhD, FACMG

Piers Blombery, BSc, MBBS, FRACP, FRCPA

Tracy Brandt, Ph.D., FACMG

Emery H. Bresnick, Ph.D.

Anna Brown, Ph.D.

Katherine R. Calvo, M.D. Ph.D.

Hui-Lin Chin, MD

Natalie Deuitch, MS, CGC

Jean Donadieu, MD, PhD

Alejandro Ferrer, PhD

Simone Feurstein, M.D.

Inge Govaerts, MD, PhD

Fernanda Gutierrez-Rodrigues, Pharm D, PhD, NHLBI

Christopher Hahn, PhD

Zach Hattig, MSc

Rachel Hendricks, BS

Claire Homan, PhD

Xiaolin Hu, PhD

Sarah A Jackson, MS, CGC

Sioban Keel, M.D.

Chimene Kesserwan, MD

Kinga Krawiec, MD

Lise Larcher PharmD

Vincent-Philippe Lavallée MD

Zejuan Li, Ph.D.

Peng Li, PhD

Alessandro Liquori, PhD

Paul Liu, M.D. Ph.D.

Meghan Lundy, MS

Xi Luo, PhD

Minjie Luo, PhD

Emily M. Mace, PhD

Madhavi Maddali, MD DNB

Luca Malcovati, M.D.

Abbye McEwen, MD, PhD

Shannon McWeeney, Ph.D.

Nikita Mehta, MS, CGC

Christine Lindsay Miller, PhD

Shruthi Mohan, PhD

Kim Nichols, M.D.

Marena R. Niewisch, MD

Seishi Ogawa, MD, PhD

Daniel Pineda-Alvarez, MD

Christopher Porter, M.D.

Rachel Robinson, PhD

Amagoia Ruiz Martin, MD

Marta Santiago Balsera, MD

Ilaria Scarpelli

Edith Sepulchre, MD

William Smith, MD

Jean Soulier, M.D., Ph.D.

Maria Noel Spangenberg, MD

Nancy A. Speck, Ph.D.

Piotr Strzalka, MD

Ryan Stubbins, MD, MSc

Eran Tallis, MD

Ing-Soo Tiong, MD

Amy Trottier, MD, MSc, FRCPC

Ying Wang, M.D., Ph.D.

Marcin Wlodarski, MD, PhD

Liying Zhang, MD, PhD

Past Members

Panagiotis Baliakas, M.D., Ph.D.

Michael Chicka, Ph.D.

Courtney DiNardo, M.D.

Jean Donadieu, MD, PhD

James Drummond

Mark Fleming, M.D., D.Phil.

Amy P. Hsu, B.A.

Sarah King-Smith, Ph.D., M.Sc.

Tabitha Osler, MSc

Sharon E. Plon, MD, PhD

Anna Raimbault, Ph.D.

Lesley Rawlings, Ph.D.

Justyne E. Ross, PhD

Mark Routbort, M.D., Ph.D.

Gabriella Ryan, Ph.D.

Kaylee Scozzaro, MS, CGC

Flore Sicre de Fontbrune

Tom Vulliamy, Ph.D.

Michael Walsh, MD

Chairs

Lucy A. Godley, M.D., Ph.D.

David Wu, M.D., Ph.D.

Coordinators

Please contact a coordinator if you have questions.

Zach Hattig, MSc

[email protected]

Taylor Walker, M. Eng

[email protected]

In partnership with:

American Society of Hematology

American Society of Hematology

Visit the ClinGen Partnership Working Group page to learn about the nature of ClinGen's funding agreements with partners.