What Is a Variant of Uncertain Significance in Genetic Testing?

Piper Nicolosi; Brandie Heald; Edward D Esplin

doi:10.1016/j.euf.2022.03.018

What Is a Variant of Uncertain Significance in Genetic Testing?

Eur Urol Focus. 2022 May;8(3):654-656. doi: 10.1016/j.euf.2022.03.018. Epub 2022 Apr 11.

Authors

Piper Nicolosi¹, Brandie Heald², Edward D Esplin²

Affiliations

¹ Invitae Corporation, San Francisco, CA, USA. Electronic address: piper.nicolosi@invitae.com.
² Invitae Corporation, San Francisco, CA, USA.

PMID: 35422376
DOI: 10.1016/j.euf.2022.03.018

Abstract

Genetic testing is a critical tool in the medical management of disease; however, for variants of uncertain significance there is insufficient evidence to prove a connection between the variant and disease and they should not be used as a basis for clinical decisions.

MeSH terms

Genetic Testing*
Humans