Session # 3046T

Scaling the Resolution of Sequence Variant Classification Discrepancies in ClinVar

  • 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

  • Authors: Steven M. Harrison; Jill Dolinsky; Wenjie Chen; Alison Coffey; Christin D. Collins; Soma Das; Joshua L. Deignan; Kathryn B. Garber; John Garcia; Olga Jarinova; Izabela Karbassi; Amy E. Knight Johnson; Juha W. Koskenvuo; Hane Lee; Rong Mao; Ales Maver; Rebecca Mar-Heyming; Andrew McFaddin; Krista Moyer; Narasimhan Nagan; Stefan Rentas; Avni B. Santani; Carol Saunders; Eija H. Seppälä; Brian Shirts; Timothy Tidwell; Scott Topper; Lisa M. Vincent; Kathy Vinette; Heidi L. Rehm
  • Collaborators: ClinVar; Harvard University
  • Conference: American Society of Human Genetics (ASHG) 2018
  • Date: Thursday, Oct 18, 2018 3:00pm - 4:00pm

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