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: DICER1: G1824V; rs377685186

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Lack of pathogenic germline DICER1 variants in males with testicular germ-cell tumors.

Cancer Genetics

Vasta, Lauren M LM; McMaster, Mary L ML; Harney, Laura A LA; Ling, Alexander A; Kim, Jung J; Harris, Anne K AK; Carr, Ann G AG; Damrauer, Scott M SM; Rader, Daniel J DJ; Kember, Rachel L RL; Kanetsky, Peter A PA; Nathanson, Katherine L KL; Pyle, Louise C LC; Greene, Mark H MH; Schultz, Kris Ann KA; Stewart, Douglas R DR; ,

Publication Date: 2020-10

Variant appearance in text: DICER1: 5471G>T; Gly1824Val

PubMed Link: 33158809

Variant Present in the following documents:

• Main text

View BVdb publication page

The prevalence of germline DICER1 pathogenic variation in cancer populations.

Molecular Genetics & Genomic Medicine

Kim, Jung J; Schultz, Kris Ann P KAP; Hill, Dana Ashley DA; Stewart, Douglas R DR

Publication Date: 2019-03

Variant appearance in text: DICER1: Gly1824Val

PubMed Link: 30672147

Variant Present in the following documents:

• Main text
• MGG3-7-na.pdf

View BVdb publication page