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: R33052C; rs758109676

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Thomson, Kate L KL; Ormondroyd, Elizabeth E; Harper, Andrew R AR; Dent, Tim T; McGuire, Karen K; Baksi, John J; Blair, Edward E; Brennan, Paul P; Buchan, Rachel R; Bueser, Teofila T; Campbell, Carolyn C; Carr-White, Gerald G; Cook, Stuart S; Daniels, Matthew M; Deevi, Sri V V SVV; Goodship, Judith J; Hayesmoore, Jesse B G JBG; Henderson, Alex A; Lamb, Teresa T; Prasad, Sanjay S; Rayner-Matthews, Paula P; Robert, Leema L; Sneddon, Linda L; Stark, Hannah H; Walsh, Roddy R; Ware, James S JS; Farrall, Martin M; Watkins, Hugh C HC; ,

Publication Date: 2019-07

Variant appearance in text: TTN: 99154C>T; Arg33052Cys

PubMed Link: 30531895

Variant Present in the following documents:

• 41436_2018_375_MOESM1_ESM.xlsx, sheet 15

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Germline TTN variants are enriched in PTEN-wildtype Bannayan-Riley-Ruvalcaba syndrome.

Npj Genomic Medicine

Yehia, Lamis L; Ni, Ying Y; Eng, Charis C

Publication Date: 2017

Variant appearance in text: TTN: 99154C>T; R33052C

PubMed Link: 29263846

Variant Present in the following documents:

• Main text
• 41525_2017_Article_39.pdf

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