ClinGen Sequence Variant Interpretation Working Group
GPTKB entity
Statements (12)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:parliamentary_committee
|
| gptkbp:collaboratesWith |
Association for Molecular Pathology (AMP)
American College of Medical Genetics and Genomics (ACMG) |
| gptkbp:contributedTo |
development of variant interpretation guidelines
|
| gptkbp:established |
2015
|
| gptkbp:focusesOn |
sequence variant interpretation
|
| https://www.w3.org/2000/01/rdf-schema#label |
ClinGen Sequence Variant Interpretation Working Group
|
| gptkbp:partOf |
Clinical Genome Resource (ClinGen)
|
| gptkbp:publishes |
recommendations for sequence variant interpretation
|
| gptkbp:website |
https://clinicalgenome.org/working-groups/sequence-variant-interpretation-wg/
|
| gptkbp:bfsParent |
gptkb:ACMG_guidelines_for_interpretation_of_sequence_variants
|
| gptkbp:bfsLayer |
7
|