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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Appendix: Interpretation of Sequence Analysis Results

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

Estimated reading time: 1 minute

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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Bookshelf ID: NBK6851


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