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: L227P; rs760011764

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.

The Journal Of Pediatrics

Freed, Amanda S AS; Clowes Candadai, Sarah V SV; Sikes, Megan C MC; Thies, Jenny J; Byers, Heather M HM; Dines, Jennifer N JN; Ndugga-Kabuye, Mesaki Kenneth MK; Smith, Mallory B MB; Fogus, Katie K; Mefford, Heather C HC; Lam, Christina C; Adam, Margaret P MP; Sun, Angela A; McGuire, John K JK; DiGeronimo, Robert R; Dipple, Katrina M KM; Deutsch, Gail H GH; Billimoria, Zeenia C ZC; Bennett, James T JT

Publication Date: 2020-11

Variant appearance in text: SCN5A: 680T>C; L227P

PubMed Link: 32553838

Variant Present in the following documents:

• Main text

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: SCN5A: 680T>C; L227P

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: SCN5A: 680T>C; Leu227Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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A variant of Brugada syndrome.

Proceedings (Baylor University. Medical Center)

Switzer, Maryna Popp MP; Teleb, Mohamed M; Agunanne, Enoch E; Abbas, Aamer A

Publication Date: 2017-01

Variant appearance in text: SCN5A: L227P

PubMed Link: 28127136

Variant Present in the following documents:

• Main text

View BVdb publication page