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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

Papers overview

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Highly Cited
2018
Highly Cited
2018
PurposeWe evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant… Expand
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Highly Cited
2008
Highly Cited
2008
OBJECTIVE Unclassified variants (UVs, variants of uncertain clinical significance) are found in 13% of all BRCA1/2 mutation… Expand
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2008
2008
Purpose: To assess the feasibility of identifying patients with (atypical) MUTYH-associated polyposis (MAP) by KRAS2 c.34G > T… Expand
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Highly Cited
2008
Highly Cited
2008
PURPOSE Twenty percent of individuals with a strong family and/or personal history of breast and ovarian cancer carry a… Expand
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Highly Cited
2007
Highly Cited
2007
BACKGROUND Heterozygous defects in mismatch-repair (MMR) genes cause hereditary nonpolyposis colorectal cancer (HNPCC). In this… Expand
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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… Expand
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2005
2005
BACKGROUND The clinical relevance of BRCA1/2 alterations in ovarian carcinoma patients is debatable. Our aim was to determine… Expand
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2005
2005
Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas… Expand
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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… Expand
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Highly Cited
1995
Highly Cited
1995
Genotypes of hepatitis C virus (HCV) present within 104 samples from HCV-infected individuals from Africa, the Middle East, the… Expand
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