PrimoVUS

PrimoVUS

PrimoVUSVUS evidence workbench · GRCh37

Paste a VCF line (hg19), coordinates, an HGVS c. on a RefSeq/Ensembl transcript, or an rsID.

PrimoVUS · data pulled live from Ensembl VEP (GRCh37), MyVariant.info/dbNSFP, gnomAD, ClinVar, UniProt and Europe PMC. Suggested ACMG criteria are a starting point; the final classification is yours.

History & follow-up

Import

Every variant you analyze is saved in this browser. Variants are re-checked automatically when you open PrimoVUS if the last check was more than the number of days set in Settings (ClinVar classification, new papers naming the variant, PanelApp ratings for the gene). Export to move the list to another computer.

Settings

Claude API key (stays in this browser only)

Model Summary language

Primary predictor for PP3/BP4 (missense)

PM2 max AF – dominant PM2 max AF – recessive BS1 AF – dominant BS1 AF – recessive

Re-check saved variants every (days)

Frequency rules use gnomAD v4 grpmax (exomes + genomes, populations with AN ≥ 2000). BA1 is fixed at 5%.