Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices
Author:
Affiliation:
1. Cancer Genetics Program UT Southwestern Medical Center Dallas Texas USA
2. Oncology‐Abstraction Tempus Labs, Inc. Chicago Illinois USA
Publisher
Wiley
Subject
Genetics (clinical)
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jgc4.1626
Reference38 articles.
1. Actionable exomic incidental findings in 6503 participants: challenges of variant classification
2. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium
3. The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results
4. Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing
5. Gene Variant Databases and Sharing: Creating a Global Genomic Variant Database for Personalized Medicine
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