Sequence Variant Inter-Laboratory Discrepancy Resolution

Publications:

Harrison, Steven M. et al. "Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach." Human mutation39.11 (2018): 1641-1649.

Harrison, Steven M. et al. “Clinical Laboratories Collaborate to Resolve Differences in Variant Interpretations Submitted to ClinVar.” Genetics in medicine: official journal of the American College of Medical Genetics 19.10 (2017): 1096–1104. PMC. Web. 17 Jan. 2018.

Laboratories now participating in discrepancy resolution:


Name Role
Jill Dolinksy, RN, MS, CGC Executive Leadership
Steven Harrison, PhD Executive Leadership

Leadership

Jill Dolinksy, RN, MS, CGC

Steven Harrison, PhD


Membership

Membership in this committee spans many fields, including genetics, medical, academia, and industry. [View Members]