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Variants of unknown significance in the CAPN3 gene constitute a significant challenge for genetic counselling.
There was no significant difference between subgroups of atypia of unknown significance (p = 0.934).
Patient #11 had a constitutional sequence change of unknown significance.
He found nodules of unknown significance on people's kidneys and adrenal glands.
Variants were classified as pathogenic, benign, or a variant of unknown significance.
Tavtigian, SV & Greenblatt, MS. R01CA164944: Classifying DNA Mismatch Repair Gene Variants of Unknown Significance.
Variants of unknown significance (VUS) are genetic variants whose association with disease risk is unknown.
The p.Val200Met mutation, inherited from his mother, is a variant of unknown significance (VUS).
Their presence more likely indicates cellular remodelling processes of hitherto unknown significance.
Of 806 curated germ-line variants, 5% were clinically relevant and 56% were classified as variants of unknown significance.
Of all curated germ-line variants, 56% were classified as variants of unknown significance (Supplementary Figure S5 online).
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