ClinVar-wide (~14,000 genes)

ClinVar VUS Reclassification: Evolutionary evidence identifies 20% of VUS as likely benign across 14,000 genes

Cross-referencing VUS and conflicting variants from ClinVar across approximately 14,000 genes showed that evolutionary evidence can identify an average of 20% of VUS missense mutations as likely benign, with a range of 10-40% depending on the gene across 93% of ClinVar genes tested.

Genome-wide analysis across approximately 14,000 ClinVar genes with VUS or conflicting classifications.
The finding

Evolutionary evidence identifies an average of 20% of VUS missense mutations as likely benign — ranging from 10-40% by gene — across 93% of ClinVar genes tested.

01
20%
average of VUS missense mutations identified as likely benign via evolutionary evidence
02
~14,000
ClinVar genes analyzed with VUS or conflicting classifications
03
93%
of ClinVar genes tested showed meaningful evolutionary signal (10-40% resolution range)
The study

The evidence at a glance.

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