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: MYH7: I1558F; rs201326686

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Population-based variation in cardiomyopathy genes.

Circulation. Cardiovascular Genetics

Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Fahrenbach, John P JP; Dellefave-Castillo, Lisa M LM; Wolfgeher, Don D; McNally, Elizabeth M EM

Publication Date: 2012-08-01

Variant appearance in text: MYH7: I1558F

PubMed Link: 22763267

Variant Present in the following documents:

• Main text

View BVdb publication page