Further Evidence That the CFTR Variant c.2620-6T>C Is Benign.
The c.2620-6T>C variant in theCFTRgene 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.
Hawai'i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USA.
Violet I
VI
Wallerstein
Hawai'i Community Genetics, Kapiolani Medical Center for Women and Children, 1319 Punahou Street, Honolulu, HI 98626, USA.
Robert
0000-0003-2102-7950
R
Wallerstein