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: POLE: A374T; rs1188949540

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Germline POLE and POLD1 proofreading domain mutations in endometrial carcinoma from Middle Eastern region.

Cancer Cell International

Siraj, Abdul K AK; Parvathareddy, Sandeep Kumar SK; Bu, Rong R; Iqbal, Kaleem K; Siraj, Sarah S; Masoodi, Tariq T; Concepcion, Rica Micaela RM; Ghazwani, Laila Omar LO; AlBadawi, Ismail I; Al-Dayel, Fouad F; Al-Kuraya, Khawla S KS

Publication Date: 2019

Variant appearance in text: POLE: 1120G>A

PubMed Link: 31866764

Variant Present in the following documents:

• 12935_2019_Article_1058.pdf

View BVdb publication page