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Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.

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GeneReviews® [Internet].

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Appendix: Interpretation of Sequence Analysis Results

Initial Posting: ; Last Revision: May 19, 2016.

Types of sequence variants that may be detected 1

  • Pathogenic sequence variants reported in the literature
  • Sequence variants predicted to be pathogenic but not reported in the literature
  • Variants of unknown clinical significance 2
  • Sequence variants predicted to be likely benign but not reported in the literature
  • Benign sequence variants reported in the literature or in population databases

Possibilities when a sequence variant is not detected

  • Patient does not have a pathogenic variant in the tested gene (e.g., a sequence variant exists in another gene at another locus).
  • Patient has a sequence variant that cannot be detected by sequence analysis (e.g., a large deletion).
  • Patient has a sequence variant in a region of the gene (e.g., an intron or regulatory region) not covered by the laboratory's test.

1. Adapted from 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 [2015]

2. Family studies may be used to determine if a sequence variant segregates with the phenotype or occurred de novo.

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GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2017 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

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For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

Bookshelf ID: NBK6851

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