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: CALR: L318V; rs372777769

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Exome sequencing in 51 early onset non-familial CRC cases.

Molecular Genetics & Genomic Medicine

Thutkawkorapin, Jessada J; Lindblom, Annika A; Tham, Emma E

Publication Date: 2019-05

Variant appearance in text: CALR: L318V; rs372777769

PubMed Link: 30809968

Variant Present in the following documents:

• MGG3-7-e605-s002.xlsx, sheet 1

View BVdb publication page

A novel, somatic, transforming mutation in the extracellular domain of Epidermal Growth Factor Receptor identified in myeloproliferative neoplasm.

Scientific Reports

Casolari, D A DA; Nguyen, T T; Butcher, C M CM; Iarossi, D G DG; Hahn, C N CN; Bray, S C SC; Neufing, P P; Parker, W T WT; Feng, J J; Maung, K Z Y KZY; Wee, A A; Vidovic, L L; Kok, C H CH; Bardy, P G PG; Branford, S S; Lewis, I D ID; Lane, S W SW; Scott, H S HS; Ross, D M DM; D'Andrea, R J RJ

Publication Date: 2017-05-26

Variant appearance in text: CALR: 952C>G; Leu318Val; rs372777769

PubMed Link: 28550306

Variant Present in the following documents:

• 41598_2017_2655_MOESM2_ESM.xls, sheet 1

View BVdb publication page