Concepedia

Benign Variant Interpretation

Benign Variant Interpretation is a formal assessment framework within germline variant interpretation that classifies a genetic variant as unlikely to cause disease based on evidence from population frequency, functional studies, computational predictions, and inheritance patterns.

26

Publications

2.5K

Citations

195

Authors

102

Institutions

Publications per year

2017–2026

16

Parents

Publications

26

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion

Ahmad Abou Tayoun, Tina Pesaran, Marina T. DiStefano et al. · Human Mutation · 2018 · 881 citations

, , +14

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing

Elaine Chen, Flavia M. Facio, Kerry Aradhya et al. · JAMA Network Open · 2023 · 217 citations · Full text

, , +17

Updated recommendation for the benign stand‐alone ACMG/AMP criterion

Rajarshi Ghosh, Steven M. Harrison, Heidi L. Rehm et al. · Human Mutation · 2018 · 181 citations

, , +15

Gene‐specific criteria for <i>PTEN</i> variant curation: Recommendations from the ClinGen PTEN Expert Panel

Jessica L. Mester, Rajarshi Ghosh, Tina Pesaran et al. · Human Mutation · 2018 · 171 citations · Full text

, , +17

A Cellular Assay Distinguishes Normal and Mutant TIGR/Myocilin Protein

Zhaohui Zhou, Douglas Vollrath · Human Molecular Genetics · 1999 · 141 citations · Full text

, , +13

1–5 of 26

Authors

195

  1. SE
    Sharon E. Plon

    Baylor College of Medicine, United States

    3 publications · 376 citations

    3

    h-index

  2. TP
    Tina Pesaran

    Ambry Genetics (United States), United States

    3 publications · 1.1K citations

    3

    h-index

  3. AB
    Amanda B. Spurdle

    QIMR Berghofer Medical Research Institute, Australia

    3 publications · 77 citations

    3

    h-index

  4. LZ
    Liying Zhang

    Memorial Sloan Kettering Cancer Center, United States

    2 publications · 195 citations

    2

    h-index

  5. LG
    Leslie G. Biesecker

    National Human Genome Research Institute, United States

    2 publications · 1.1K citations

    2

    h-index

1–5 of 195

Institutions

102

  1. Broad Institute

    Cambridge, United States

    3 h-index

    4 publications

    1.1K citations

  2. Massachusetts General Hospital

    Boston, United States

    3 h-index

    4 publications

    1.1K citations

  3. QIMR Berghofer Medical Research Institute

    Brisbane, Australia

    3 h-index

    13 publications

    234 citations

  4. Ambry Genetics (United States)

    Aliso Viejo, United States

    3 h-index

    7 publications

    1.5K citations

  5. Stanford University

    Stanford, United States

    3 h-index

    5 publications

    887 citations

  6. Baylor College of Medicine

    Houston, United States

    3 h-index

    6 publications

    752 citations

  7. National Institutes of Health

    Bethesda, United States

    3 h-index

    4 publications

    1.1K citations

  8. University of California, Los Angeles

    Los Angeles, United States

    2 h-index

    2 publications

    241 citations

1–8 of 102

Venues

  1. Human Mutation

    5 publications · 1.3K citations

    5

    h-index

  2. American Journal of Medical Genetics

    2 publications · 85 citations

    2

    h-index

  3. Human Molecular Genetics

    1 publications · 141 citations

    1

    h-index

  4. Circulation Research

    1 publications · 38 citations

    1

    h-index

  5. Journal of Proteome Research

    JPR · 1 publications · 12 citations

    1

    h-index

1–5