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: PTS: A83E; rs775426269

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Clinical Genetics

Kaseniit, Kristjan E KE; Collins, Elizabeth E; Lo, Christine C; Moyer, Krista K; Mar-Heyming, Rebecca R; Kang, Hyunseok P HP; Muzzey, Dale D

Publication Date: 2019-09

Variant appearance in text: PTS: 248C>A

PubMed Link: 31170325

Variant Present in the following documents:

• CGE-96-236-s003.pdf

View BVdb publication page