Article
Reclassification of the BRAF p.Ile208Val variant by case-level data sharing.
Cold Spring Harbor molecular case studies - 1 Oct 2018
Grant Andrew R, Hemphill Sarah E, Vincent Lisa M, Rehm Heidi L
Abstract excerpt
The ClinVar database is a useful tool for patients and physicians to view variant interpretations submitted by clinical and nonclinical labs. However, variants of uncertain significance (VUS) in ClinVar can pose a significant burden on patients. If possible, it is important to resolve discrepancies and uncertainties surrounding interpreted variants. Here we highlight a case of a family who received a report of a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.