Oncology

Session # 58, Abstract Program #229

 Resolving variant interpretation differences in ClinVar between 43 clinical laboratories.

•While the majority of variant classifications agree between laboratories, among those submitting to ClinVar, 2.5% of all shared variants have medically significant differences with potential to impact medical management
•Spearheaded by Ambry Genetics and Laboratory for Molecular Medicine, we are undergoing an initiative to collaborate between laboratories in an effort to resolve these discrepancies in ClinVar through re-evaluation of variants and sharing of data between labs.
•It is anticipated this process will resolve at least 80% of existing medically significant differences

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