ClinGen 52-gene panel (multi-gene)

ClinGen 52-Gene Validation: Pathogenic variants are absent from primate evolution

Across 2,689 expert-classified SNVs from 52 ClinGen-curated genes, no variant classified as pathogenic or likely pathogenic co-occurred in the CodeXome primate database. Benign variants shared with primates were directly resolvable as biologically tolerated.

52 ClinGen expert-curated disease genes, representing the most rigorously classified gene-disease relationships in human genomics.
The finding

Zero pathogenic variants from 52 ClinGen-curated genes co-occurred in the primate database — while benign variants shared with primates were directly clearable.

01
2,689
expert-classified SNVs cross-referenced against CodeXome primate data
02
52
ClinGen expert-curated disease genes in the panel
03
0
pathogenic or likely pathogenic variants co-occurred in the primate database
The study

The evidence at a glance.

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