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: TTN: T14460I; rs1452796827

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Metastatic and recurrent adrenocortical cancer is not defined by its genomic landscape.

Bmc Medical Genomics

Fojo, Tito T; Huff, Lyn L; Litman, Thomas T; Im, Kate K; Edgerly, Maureen M; Del Rivero, Jaydira J; Pittaluga, Stefania S; Merino, Maria M; Bates, Susan E SE; Dean, Michael M

Publication Date: 2020-11-04

Variant appearance in text: TTN: T14460I

PubMed Link: 33148256

Variant Present in the following documents:

• 12920_2020_809_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page