ACMG guidelines for interpretation of sequence variants
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
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
|
| https://www.w3.org/2000/01/rdf-schema#label |
ACMG guidelines for interpretation of sequence variants
|
| 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
|