Advanced variant classification following ACMG guidelines with AI-powered analysis
Upload your VEP-annotated VCF file with optional HPO terms
Click to upload VCF file
Supports .vcf.gz formats (Max 100MB)
VCF file must be VEP-annotated with CSQ header
Enter HPO terms separated by commas (leave empty if not applicable)
Every corpse on the Everest was once a highly motivated person, so yeah large vcf files can take time, Tool is not broken take a 10 min KitKat break
Built with the latest ACMG guidelines and powered by advanced algorithms
Follows the latest ACMG/AMP guidelines for variant interpretation
Get results in seconds with our optimized classification engine
Comprehensive classification reports with evidence breakdown