ACMG guidelines for interpretation of sequence variants

URI: https://gptkb.org/entity/ACMG_guidelines_for_interpretation_of_sequence_variants
GPTKB entity
Statements (27)
Predicate Object
gptkbp:instanceOf gptkb:clinical_guideline
gptkbp:appliesTo clinical genetics
sequence variants
gptkbp:category benign
pathogenic
likely benign
likely pathogenic
uncertain significance
gptkbp:citation Richards S, et al. Genet Med. 2015;17(5):405-424.
gptkbp:defines five-tier classification system
gptkbp:impact genetic counseling
clinical decision making
gptkbp:issuedBy gptkb:Association_for_Molecular_Pathology
gptkb:American_College_of_Medical_Genetics_and_Genomics
gptkbp:publicationYear 2015
gptkbp:purpose standardize interpretation of genetic variants
gptkbp:updated gptkb:ClinGen_Sequence_Variant_Interpretation_Working_Group
gptkbp:usesEvidenceType population data
functional data
allelic data
computational data
de novo data
other database information
segregation data
gptkbp:bfsParent gptkb:ACMG
gptkbp:bfsLayer 6
https://www.w3.org/2000/01/rdf-schema#label ACMG guidelines for interpretation of sequence variants