VARIANT OF UNKNOWN SIGNIFICANCE

Known as: Variant of Undetermined Significance, unclassified variant, variant of uncertain significance 
A variation in a genetic sequence whose association with disease risk is unknown.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1984-2018
010203019842018

Papers overview

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2015
2015
Purpose:Clinical testing for germ-line variation in multiple cancer susceptibility genes is available using massively parallel… (More)
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2015
2015
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a disease spectrum. However… (More)
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2012
2012
BACKGROUND Usher syndrome (USH) is an autosomal recessive disorder comprising retinitis pigmentosa, hearing loss and, in some… (More)
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Highly Cited
2009
Highly Cited
2009
BACKGROUND In women at increased risk for breast and ovarian cancer, the identification of a mutation in breast cancer gene 1… (More)
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2008
2008
PURPOSE Twenty percent of individuals with a strong family and/or personal history of breast and ovarian cancer carry a… (More)
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2007
2007
PURPOSE The BRCAPRO model, used to predict a family's likelihood of carrying a BRCA1 or BRCA2 mutation, was designed using… (More)
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Highly Cited
2006
Highly Cited
2006
Classification of rare missense variants as neutral or disease causing is a challenge and has important implications for genetic… (More)
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Highly Cited
2003
Highly Cited
2003
BACKGROUND Although as many as 10% of pancreatic cancer cases may have an inherited component, familial pancreatic cancer has not… (More)
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1999
1999
Mutation analysis of two genes involved in melanoma susceptibility (CDKN2A/p16(INK4a) and CDK4) was undertaken in 131 probands… (More)
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1995
1995
Genotypes of hepatitis C virus (HCV) present within 104 samples from HCV-infected individuals from Africa, the Middle East, the… (More)
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