@jwbelmon @tuuliel @dgmacarthur The @ClinGenResource work led by @BergLabUNC @SarahBrnich recommend "The terms “functionally normal” or “functionally abnormal” should be used to describe the functional impact of a variant as measured in a given assay.” See
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I then tested 37 PALB2 variants. Of 25 missense #VUS, 13 had nml function (BS3_supp), 4 were indeterminate, and 8 had abnormal function (PS3_mod). Strength was assigned as previously outlined: https://t.co/gLJwTH0Ujg 3/5 https://t.co/wh5FaGIpDk
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework. https://t.co/lnZG6NXekk #gcchat
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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework - https://t.co/9IV2JimDM5