Ranking diseases with FDA-approved treatments by ClinVar submissions normalized by disease prevalence (Orphanet). Higher = more patients genetically identified relative to expected population.
Metric
Window
Category
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Disease
Company & Drug
Discovery Rate
iDiscovery Rate = ClinVar submissions in trailing N months ÷ disease prevalence per 100,000 (Orphanet). A 3-month trailing average is applied to smooth batch-upload noise. Higher = more patients genetically identified relative to expected population.
Total Subs
iTotal Submissions = total number of ClinVar SCV records (individual lab submissions) for pathogenic/likely pathogenic variants in this gene, all time.
Trend (24 mo)
iTrend = monthly ClinVar submission counts over the last 24 months, shown as a sparkline. Height represents relative submission volume.
Discovery Rate Race
iDiscovery Rate over time for each disease. The metric is: ClinVar submissions in trailing N months ÷ Orphanet prevalence per 100k. A 3-month trailing average smooths batch-upload spikes. Use the window toggle above to change the trailing period.