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Cystic Fibrosis vs Fabry Disease

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ClinVar Discovery Rate Comparison

Cumulative P/LP submissions normalized by disease prevalence

Subs / Prevalence
Cystic Fibrosis (CFTR)
Fabry Disease (GLA)
FDA Approval Timeline

When each treatment was approved — earlier approvals may correlate with longer diagnostic incentive

ClinVar Submitter Overlap

Labs that submit P/LP variants to ClinVar for both diseases

Key Takeaways
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