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Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

Session:
#3046
Date:
Thursday, Oct 18, 2018 3:00pm – 4:00pm
Conference:
ASHG 2018
Authors:
Ales Maver, Alison Coffey, Amy E. Knight Johnson, Andrew McFaddin, Avni B. Santani, Brian Shirts, Carol Saunders, Christin D. Collins, Eija H. Seppälä, Hane Lee, Heidi L. Rehm, Izabela Karbassi, Jill Dolinsky, John Garcia, Joshua L. Deignan, Juha W. Koskenvuo, Kathryn B. Garber, Kathy Vinette, Krista Moyer, Lisa M. Vincent, Narasimhan Nagan, Olga Jarinova, Rebecca Mar-Heyming, Rong Mao, Scott Topper, Soma Das, Stefan Rentas, Steven M. Harrison, Timothy Tidwell, Wenjie Chen
Collaborators:
  • The first phase of this project involved ClinVar submissions from 41 clinical laboratories, and found that 84.6% of classifications were concordant and only 2.7% (650 variants) of variants were medically significant differences (MSDs) with potential to impact medical management. Of the discrepant results that  have been reviewed, 62.3% have now been resolved through data sharing
  • The second, ongoing phase of this project includes all labs submitting to ClinVar (108  submitters) and preliminary data projects a 54.3% resolution rate.
  • 24.3% of variants with medically significant differences between labs have been resolved within a 1 year timeframe, demonstrating conflicts will resolve through routine reassessment by laboratories, however, highlighting the outlier classification for laboratories helps to accelerate and improve conflict resolution rates
Abstract