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: E34041K; rs377600383

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy.

Molecular Genetics & Genomic Medicine

Gaertner-Rommel, Anna A; Tiesmeier, Jens J; Jakob, Thomas T; Strickmann, Bernd B; Veit, Gunter G; Bachmann-Mennenga, Bernd B; Paluszkiewicz, Lech L; Klingel, Karin K; Schulz, Uwe U; Laser, Kai T KT; Karger, Bernd B; Pfeiffer, Heidi H; Milting, Hendrik H

Publication Date: 2019-08

Variant appearance in text: TTN: 102121G>A; Glu34041Lys; rs377600383

PubMed Link: 31293105

Variant Present in the following documents:

• Main text
• MGG3-7-e841.pdf

View BVdb publication page