Concepedia

Variant Reclassification

Variant Reclassification is the process of revising the clinical significance assignment of a genetic variant in the context of cardiovascular disease based on new evidence, thereby distinguishing it from initial classification through the integration of updated genomic, functional, or population data.

50

Publications

2.5K

Citations

465

Authors

212

Institutions

Publications per year

2017–2026

38

Variants

Genetic Variant Reclassification

Parents

Publications

50

Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing

Jacqueline Mersch, Sara Pirzadeh‐Miller, Erin Mundt et al. · JAMA · 2018 · 268 citations · Full text

, , +16

High-Throughput Reclassification of SCN5A Variants

Andrew M. Glazer, Yuko Wada, Bian Li et al. · The American Journal of Human Genetics · 2020 · 152 citations · Full text

, , +6

Follow-up of carriers of BRCA1 and BRCA2 variants of unknown significance: Variant reclassification and surgical decisions

Mitzi L. Murray, Felecia Cerrato, Robin L. Bennett et al. · Genetics in Medicine · 2011 · 144 citations

, , +14

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications

Erica D. Smith, Kelly Radtke, Mari Rossi et al. · Human Mutation · 2017 · 119 citations · Full text

, , +14

Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

Sarah Macklin, Nisha Durand, Paldeep S. Atwal et al. · Genetics in Medicine · 2017 · 104 citations · Full text

, , +14

1–5 of 50

Authors

465

  1. LE
    Lisa E. Esterling

    National Institutes of Health, United States

    3 publications · 365 citations

    3

    h-index

  2. YW
    Yuko Wada

    Tohoku University, Japan

    3 publications · 217 citations

    3

    h-index

  3. BH
    Brian H. Shirts

    University of Washington, United States

    3 publications · 144 citations

    3

    h-index

  4. DP
    Dmitry Pruss

    Myriad Genetics, United States

    2 publications · 97 citations

    2

    h-index

  5. JN
    Jeffrey N. Weitzel

    City of Hope, United States

    2 publications · 138 citations

    2

    h-index

1–5 of 465

Institutions

212

  1. University of Washington

    Seattle, United States

    7 h-index

    18 publications

    1.2K citations

  2. Myriad Genetics

    Salt Lake City, United States

    4 h-index

    32 publications

    2.6K citations

  3. Harvard University

    Cambridge, United States

    4 h-index

    12 publications

    437 citations

  4. Mass General Brigham

    Boston, United States

    4 h-index

    6 publications

    228 citations

  5. Vanderbilt University Medical Center

    Nashville, United States

    4 h-index

    24 publications

    2.2K citations

  6. Brigham and Women's Hospital

    Boston, United States

    3 h-index

    14 publications

    667 citations

  7. Indiana University School of Medicine

    Indianapolis, United States

    3 h-index

    3 publications

    113 citations

  8. University of Michigan

    Ann Arbor, United States

    3 h-index

    8 publications

    326 citations

1–8 of 212

Venues

  1. Genetics in Medicine

    GIM · 5 publications · 405 citations

    5

    h-index

  2. Molecular Genetics & Genomic Medicine

    3 publications · 73 citations

    3

    h-index

  3. Journal of Genetic Counseling

    2 publications · 71 citations

    2

    h-index

  4. Circulation Genomic and Precision Medicine

    2 publications · 45 citations

    2

    h-index

  5. JCO Precision Oncology

    2 publications · 97 citations

    2

    h-index

1–5