Article
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Human mutation - 1 Jan 2023
Hatton Jessica N, Frone Megan N, Cox Hannah C, Crowley Stephanie B, Hiraki Susan, Yokoyama Noriko N, Abul-Husn Noura S, Amatruda James F, Anderson Michael J, Bofill-De Ros Xavier, Carr Ann G, Chao Elizabeth C, Chen Kenneth S, Gu Shuo, Higgs Cecilia, Machado Jerry, Ritter Deborah, Schultz Kris Ann, Soper Emily R, Wu Mona K, Mester Jessica L, Kim Jung, Foulkes William D, Witkowski Leora, Stewart Douglas R
Abstract excerpt
Germline pathogenic variants in DICER1 predispose individuals to develop a variety of benign and malignant tumors. Accurate variant curation and classification is essential for reliable diagnosis of DICER1-related tumor predisposition and identification of individuals who may benefit from surveillance. Since 2015, most labs have followed the American College of Medical Genetics and Genomics and the Association...
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