Harmonizing variant classification for return of results in the All of Us Research Program.
Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08
Variant appearance in text: LDLR: 542C>G; Pro181Arg
Saadatagah, Seyedmohammad S; Jose, Merin M; Dikilitas, Ozan O; Alhalabi, Lubna L; Miller, Alexandra A AA; Fan, Xiao X; Olson, Janet E JE; Kochan, David C DC; Safarova, Maya M; Kullo, Iftikhar J IJ
Publication Date: 2021-04-14
Variant appearance in text: LDLR: 542C>G; Pro181Arg
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Lee, Christopher C; Elsekaily, Omar O; Kochan, David C DC; Alhalabi, Lubna L; Faizee, Faizan F; Sharp, Richard R; Lindor, Noralane M NM; Kullo, Iftikhar J IJ
Publication Date: 2021-07
Variant appearance in text: LDLR: 542C>G; Pro181Arg