Staff Links

Variant Classification and Clinical Reporting of Results

The University of Washington Department of Laboratory Medicine will classify and interpret sequence variants following the recommendations of the American College of Medical Genetics (ACMG) and International Agency for Research on Cancer (IARC), as follows:

  1. Pathogenic Mutation
  2. Likely Pathogenic Mutation
  3. Variant of Uncertain Significance (VUS)
  4. Likely Benign variant
  5. Benign variant

Variants in ACMG/IARC categories (1), (2) and (3) will be included on clinical reports, along with supporting evidence as appropriate. In some cases, research studies may be available to further evaluate variants; in these cases, providers will be contacted if their patients are eligible for these studies.

Variants in categories (4) and (5) are not included on clinical reports except in very rare circumstances (for example, if needed to confirm test results previously obtained in another laboratory). Raw sequence data files and variant call files are not provided for clinical testing cases.

References

  • Plon SE, et al. Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat 2008, 29:1282-91. 18951446
  • Richards CS, et al. ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med 2008, 10:294-300. 18414213

Last updated 2019-05-17T16:49:04.087869+00:00