Interested in volunteering for curation efforts, take our survey!

If you have any questions, please feel free to email us at


Current Curation Efforts Accepting Volunteers

* These efforts require specific skill sets and/ or prior experience with curation

Dosage Sensitivity Working Group*

Dosage-Recurrent Regions*

Dosage- Neurodevelopemental*

Dosage- Hereditary Cancer (newly forming)*

Gene Curation Expert Panels

Autism and Intellectual Disability


Hemostasis/ Thrombosis

Mitochondrial Diseases

Variant Curation Expert Panels


Inherited Cardiomyopathy*


Myeloid Malignancy

VHL (Von Hippel-Lindau)*

Breast/Ovarian Cancer (newly forming)

Colorectal Cancer (newly forming)

Mitochondrial diseases


Hearing Loss*

Somatic Cancer Working Group


Nonsmall cell lung cancer (newly forming)

Pancreatic (newly forming)

Somatic TP53 (newly forming)





Danielle Azzariti, MS, CGC

Marina DiStefano, PhD

Jenny Goldstein, PhD, CGC

C. Lisa Kurtz, PhD

Jennifer McGlaughon, PhD

Laura Milko, PhD

Ronak Patel

Shruti Rao

Erin Rooney Riggs, MS, CGC

Deborah Ritter, PhD

Courtney Thaxton, PhD

Elizabeth Webber, MS

Matt Wright, PhD


Please contact a coordinator if you have questions.

Elizabeth Kearns


Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]
For more information, please contact:

Elizabeth Kearns