Franklin (Genoox)
AI-powered variant classification platform. Provides automated ACMG/AMP interpretation with community-sourced data.
What It Does
- AI-assisted ACMG/AMP variant classification
- Integrates: ClinVar, gnomAD, in-house predictions, community data
- Free community edition available
- Used by many clinical labs for variant interpretation
How to Use
Web
- Go to https://franklin.genoox.com
- Create free account
- Search variant: NM_153700:c.4976A>C or STRC E1659A
- Review AI classification and evidence
Verified Status
VERIFIED — STRC E1659A checked: absent from Franklin (confirmed PM2 evidence — not seen in 70K+ cases analyzed by Franklin community).
STRC Research Usage
- STRC E1659A Conservation and Reclassification — PM2 supporting evidence (absent)
- STRC Variant c.4976A>C — Misha — cross-reference
Next Steps
- Submit E1659A VUS-high to Franklin community when evidence is strong enough
- Monitor for new STRC variant submissions — track community classifications
- Batch query requires API key (free registration)
Connections
- ClinVar [see-also] — data source
- VarSome [see-also] — competing platform
- InterVar [see-also] — automated ACMG alternative
- STRC Variant c.4976A>C — Misha [used-in]