Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: RB1: E629D; rs367668687

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

De Novo KRAS G12C-Mutant SCLC: A Case Report.

Jto Clinical And Research Reports

Balbach, Meridith L ML; Eisenberg, Rosana R; Iams, Wade T WT

Publication Date: 2022-05

Variant appearance in text: RB1: E629D

PubMed Link: 35434667

Variant Present in the following documents:

• Main text
• main.pdf

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Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant.

Life Science Alliance

Gingras, Marie-Claude MC; Sabo, Aniko A; Cardenas, Maria M; Rana, Abbas A; Dhingra, Sadhna S; Meng, Qingchang Q; Hu, Jianhong J; Muzny, Donna M DM; Doddapaneni, Harshavardhan H; Perez, Lesette L; Korchina, Viktoriya V; Nessner, Caitlin C; Liu, Xiuping X; Chao, Hsu H; Goss, John J; Gibbs, Richard A RA

Publication Date: 2021-09

Variant appearance in text: RB1: E629D; rs367668687

PubMed Link: 34301805

Variant Present in the following documents:

• LSA-2020-00941_TableS4.xlsx, sheet 1

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Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research

Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K

Publication Date: 2019

Variant appearance in text: RB1: 1887G>C; Glu629Asp

PubMed Link: 31827798

Variant Present in the following documents:

• 40364_2019_176_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page