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: SCN5A: D197H

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?

Heartrhythm Case Reports

Marinelli, Alessio A; Costa, Alessandro A; Dugo, Clementina C; Cecchetto, Antonella A; Lanzoni, Laura L; Molon, Giulio G

Publication Date: 2021-05

Variant appearance in text: SCN5A: Asp197His

PubMed Link: 34026514

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page