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1、ACMGStandardsandGuidelines©AmericanCollegeofMedicalGeneticsandGenomics©AmericanCollegeofMedicalGeneticsandGenomicsACMGStAndArdSAndGuidelineSStandardsandguidelinesfortheinterpretationofsequencevariants:ajointconsensusrecommendationoftheAmericanCollegeofMedicalGeneticsandGenomicsandtheAssociationfor
2、MolecularPathologySue Richards,PhD1,Nazneen Aziz,PhD2,16,Sherri Bale,PhD3,David Bick,MD4,Soma Das,PhD5,Julie Gastier-Foster,PhD6,7,8,Wayne W. Grody,MD,PhD9,10,11,Madhuri Hegde,PhD12,Elaine Lyon,PhD13,Elaine Spector,PhD14,Karl Voelkerding,MD13andHeidi L. Rehm,PhD15;onbehalfoftheACMGLaboratoryQualit
3、yAssuranceCommitteeDisclaimer:TheseACMGStandardsandGuidelinesweredevelopedprimarilyasaneducationalresourceforclinicallaboratorygeneticiststohelpthempro-videqualityclinicallaboratoryservices.Adherencetothesestandardsandguidelinesisvoluntaryanddoesnotnecessarilyassureasuccessfulmedicaloutcome.TheseS
4、tandardsandGuidelinesshouldnotbeconsideredinclusiveofallproperproceduresandtestsorexclusiveofotherproceduresandteststhatarereason-ablydirectedtoobtainingthesameresults.Indeterminingtheproprietyofanyspecificprocedureortest,theclinicallaboratorygeneticistshouldapplyhisorherownprofessionaljudgmenttot
5、hespecificcircumstancespresentedbytheindividualpatientorspecimen.Clinicallaboratorygeneticistsareencouragedtodocumentinthepatient’srecordtherationalefortheuseofaparticularprocedureortest,whetherornotitisinconformancewiththeseStandardsandGuide-lines.Theyalsoareadvisedtotakenoticeofthedateanyparticu
6、larguidelinewasadoptedandtoconsiderotherrelevantmedicalandscientificinformationthatbecomesavailableafterthatdate.Italsowouldbeprudenttoconsiderwhetherintellectualpropertyinterestsmayrestricttheperformanceofcertaintestsandotherprocedures.TheAmericanCollegeofMedicalGeneticsandGenomics(ACMG)exomes,an
7、dgenomes.Thisreportrecommendstheuseofspecificstan-previouslydevelopedguidancefortheinterpretationofsequencedardterminology—“pathogenic,”“likelypathogenic,”“uncertainsig-variants.1Inthepastdecade,sequencingtechnol
