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The ACMG/AMP reputable source criteria for the interpretation of sequence variants

Genetics in Medicinevolume 20pages16871688 (2018) | Download Citation

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References

  1. 1

    Richards S, Aziz N, Bale S et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–424.

  2. 2

    Harrison SM, Dolinsky JS, Knight Johnson AE et al. Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med 2017;19:1096–1104.

  3. 3

    Nykamp K, Anderson M, Powers M et al. Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Genet Med 2017;19:1105–1117.

  4. 4

    Amendola LM, Jarvik GP, Leo MC et al. Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet 2016;99:247.

  5. 5

    Rehm HL, Berg JS, Brooks LD et al. ClinGen—the Clinical Genome Resource. N Engl J Med 2015;372:2235–2242.

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Author information

Affiliations

  1. Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA

    • Leslie G Biesecker MD
  2. Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA

    • Steven M Harrison PhD

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Consortia

  1. the ClinGen Sequence Variant Interpretation Working Group

    Disclosure

    L.G.B. is an uncompensated adviser for Illumina. S.M.H. declares no conflict of interest.

    Corresponding author

    Correspondence to Steven M Harrison PhD.

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    DOI

    https://doi.org/10.1038/gim.2018.42

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