ClinVarSift

ClinVarSift is a web app (with optional desktop CLI) that helps small clinical genomics labs and hospital teams triage and document germline variants for reporting. It ingests VCFs, pulls evidence from public resources (ClinVar, gnomAD, OMIM links, PubMed), and guides users through a structured ACMG-style evidence checklist to produce a consistent, auditable classification summary. It’s an AI-assisted app: an LLM drafts evidence summaries and flags conflicting assertions, but the final classification remains human-approved with full provenance. The core value is speed and consistency for teams that don’t have a dedicated bioinformatics engineer or expensive enterprise platform. Realistically, it won’t replace established lab information systems; it aims to be a lightweight “triage + documentation layer” that reduces manual copy/paste, missed citations, and inconsistent reasoning across analysts.