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: rs749368995

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort.

Molecular Genetics & Genomic Medicine

Cecchi, Alana C AC; Vengoechea, Elizabeth S ES; Kaseniit, Kristjan E KE; Hardy, Melanie W MW; Kiger, Laura A LA; Mehta, Nikita N; Haque, Imran S IS; Moyer, Krista K; Page, Patricia Z PZ; Muzzey, Dale D; Grinzaid, Karen A KA

Publication Date: 2019-08

Variant appearance in text: HEXA: 1275A>G

PubMed Link: 31293106

Variant Present in the following documents:

• MGG3-7-e836-s002.xlsx, sheet 5

View BVdb publication page