Analysis of hereditary cancer gene variant classifications from ClinVar indicates a need for regular reassessment of clinical assertions
Author:
Affiliation:
1. QIMR Berghofer Medical Research Institute Brisbane Queensland Australia
2. Faculty of Medicine The University of Queensland Brisbane Queensland Australia
3. Australian Genomics Melbourne Victoria Australia
Publisher
Hindawi Limited
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24468
Reference22 articles.
1. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
3. Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
4. Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar
5. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)
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