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

doi:10.1038/gim.2018.42

Comment

. 2018 Dec;20(12):1687-1688.

doi: 10.1038/gim.2018.42.

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

Leslie G Biesecker¹, Steven M Harrison²; ClinGen Sequence Variant Interpretation Working Group

Affiliations

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
² Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA. sharrison@bwh.harvard.edu.

PMID: 29543229
PMCID: PMC6709533
DOI: 10.1038/gim.2018.42

Comment

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

Leslie G Biesecker et al. Genet Med. 2018 Dec.

. 2018 Dec;20(12):1687-1688.

doi: 10.1038/gim.2018.42.

Authors

Leslie G Biesecker¹, Steven M Harrison²; ClinGen Sequence Variant Interpretation Working Group

Affiliations

¹ Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
² Partners HealthCare Laboratory for Molecular Medicine and Harvard Medical School, Boston, Massachusetts, USA. sharrison@bwh.harvard.edu.

PMID: 29543229
PMCID: PMC6709533
DOI: 10.1038/gim.2018.42

No abstract available

PubMed Disclaimer

Conflict of interest statement

DISCLOSURE

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

Comment in

Response to Biesecker and Harrison.
Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Richards CS, et al. Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. Genet Med. 2018. PMID: 29543230 No abstract available.

Comment on

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.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.

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References

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

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[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. - PMC - PubMed

[2] 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. - PMC - PubMed

[3] 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. - PMC - PubMed

[4] 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. - PMC - PubMed

[5] 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. - PMC - PubMed

[6] 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. - PMC - PubMed

[7] 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. - PMC - PubMed

[8] 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. - PMC - PubMed

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

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

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

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

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