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. 2020 Oct 26;107(5):932–941. doi: 10.1016/j.ajhg.2020.09.011

Table 4.

Suggestions to Support Continued Improvement in Germline Variant Classification and Return

Goal Suggestions
Increase concordance in interpretation and classification of germline variation Additional guidance to increase consistent application of ACMG-AMP evidence codes (ex. PM1 and PS4, especially in the context of applying PM2)
Increase laboratory awareness and consistent use of available resources (ex. ClinGen guidance)
Continue and increase sharing of gene-disease specific expertise and rationale for applying evidence across laboratories
Provide clinically meaningful results to patients and their families Ongoing work to support the interpretation and classification of uncertain genomic variation
Contextualize laboratory results in the context of the personal and family history of the individual (especially LP variants returned as secondary findings)