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Variant of uncertain significance

A variant of uncertain (or unknown) significance (VUS) is a genetic variant that has been identified through genetic testing but whose significance to the function or health of an organism is not known. Two related terms are "gene of uncertain significance" (GUS), which refers to a gene that has been identified through genome sequencing but whose…

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Variant of uncertain significance

Nodes40
Edges39
Triples2
Avg. degree1.95
Density0.05
Components1

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Important terminology

variant variants vus significance pathogenic likely gene disease health benign genome human associated found mutation genetic particular uncertain results needed

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
evidence from well-established functional studies or being identified in multiple unrelated individuals with the disease.Likely pathogenicVariants in this category show strong evidence of being disease-causing but lack definitive proofinstance ofA pathogenic variant meets stringent criteria0.80text
evidence from well-established functional studies or being identified in multiple unrelated individuals with the diseaseinstance ofA pathogenic variant meets stringent criteria0.80text

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