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Case Reports in Genetics
Volume 2017, Article ID 7281023, 2 pages
Case Report

Further Evidence That the CFTR Variant c.2620-6T>C Is Benign

Hawai’i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USA

Correspondence should be addressed to Robert Wallerstein; gro.inaloipak@nietsrellaw.trebor

Received 14 September 2016; Accepted 1 December 2016; Published 9 January 2017

Academic Editor: Patrick Morrison

Copyright © 2017 Violet I. Wallerstein and Robert Wallerstein. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


The c.2620-6T>C variant in the CFTR gene is a rare variant about which little is known. We present an asymptomatic adult who has this variant as well as the well described delta F508 pathogenic variant in transpresentation. This patient provides additional evidence that this is a benign polymorphism.