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: KMT2C: G2614R; rs750597117

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

An integrated DNA and RNA variant detector identifies a highly conserved three base exon in the MAP4K5 kinase locus.

Rna Biology

Kurkowiak, Małgorzata M; Grasso, Giuseppa G; Faktor, Jakub J; Scheiblecker, Lisa L; Winniczuk, Małgorzata M; Mayordomo, Marcos Yebenes MY; O'Neill, J Robert JR; Oster, Bodil B; Vojtesek, Borek B; Al-Saadi, Ali A; Marek-Trzonkowska, Natalia N; Hupp, Ted R TR

Publication Date: 2021-12

Variant appearance in text: KMT2C: Gly2614Arg

PubMed Link: 34190025

Variant Present in the following documents:

• KRNB_18_1932345.pdf

View BVdb publication page