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: V3319I; rs375533809

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: TTN: 9955G>A; Val3319Ile

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

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Genetic Spectrum of Idiopathic Restrictive Cardiomyopathy Uncovered by Next-Generation Sequencing.

Plos One

Kostareva, Anna A; Kiselev, Artem A; Gudkova, Alexandra A; Frishman, Goar G; Ruepp, Andreas A; Frishman, Dmitrij D; Smolina, Natalia N; Tarnovskaya, Svetlana S; Nilsson, Daniel D; Zlotina, Anna A; Khodyuchenko, Tatiana T; Vershinina, Tatiana T; Pervunina, Tatiana T; Klyushina, Alexandra A; Kozlenok, Andrey A; Sjoberg, Gunnar G; Golovljova, Irina I; Sejersen, Thomas T; Shlyakhto, Eugeniy E

Publication Date: 2016

Variant appearance in text: TTN: V3319I; rs375533809

PubMed Link: 27662471

Variant Present in the following documents:

• Main text
• pone.0163362.pdf

View BVdb publication page