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Franklin

VERIFIED

## Connections

variant-classification ai genoox

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

1. Go to https://franklin.genoox.com

2. Create free account

3. Search variant: NM_153700:c.4976A>C or STRC E1659A

4. 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)

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)