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Managing Variant Interpretation Discrepancies in Hereditary Cancer: Clinical Practice, Concerns, and Desired Resources.

Journal of genetic counseling - 1 Aug 2018

Zirkelbach Ellen, Hashmi Syed, Ramdaney Aarti, Dunnington Leslie, Ashfaq Myla, Nugent Elizabeth K, Wilson Kate

Abstract excerpt

Variant interpretation is a complex process, and classification may vary between sources. This study aimed to determine the practice of cancer genetic counselors regarding discrepancies in variant interpretation and to identify concerns when counseling these discrepancies. An electronic survey was sent to genetic counselors in the NSGC Cancer Special Interest Group. The vast majority of counselors (93%) had seen...

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PMID: 29260485
DOI: 10.1007/s10897-017-0184-6

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