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Article

Variant pathogenicity evaluation in the community-driven Inherited Neuropathy Variant Browser.

Human mutation - 1 May 2018

Saghira Cima, Bis Dana M, Stanek David, Strickland Alleene, Herrmann David N, Reilly Mary M, Scherer Steven S, Shy Michael E, Züchner Stephan

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is an umbrella term for inherited neuropathies affecting an estimated one in 2,500 people. Over 120 CMT and related genes have been identified and clinical gene panels often contain more than 100 genes. Such a large genomic space will invariantly yield variants of uncertain clinical significance (VUS) in nearly any person tested. This rise in number of VUS creates major...

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PMID: 29473246
DOI: 10.1002/humu.23412
PMCID: PMC5903998

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