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: KIT: S966Y; rs765503364

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: KIT: 2897C>A; S966Y

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

Epigenetic and genomic profiling of chordoid meningioma: implications for clinical management.

Acta Neuropathologica Communications

Daoud, Elena V EV; Zhu, Kelsey K; Mickey, Bruce B; Mohamed, Hussein H; Wen, Mandisa M; Delorenzo, Michael M; Tran, Ivy I; Serrano, Jonathan J; Hatanpaa, Kimmo J KJ; Raisanen, Jack M JM; Snuderl, Matija M; Cai, Chunyu C

Publication Date: 2022-04-19

Variant appearance in text: KIT: 2897C>A; Ser966Tyr; rs765503364

PubMed Link: 35440040

Variant Present in the following documents:

• 40478_2022_1362_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page