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seqr

VERIFIED

## Connections

population-genetics rare-disease broad-institute

What It Does

  • Variant search across 70K+ rare disease cases
  • Family-based analysis (trio, quad)
  • Variant filtering by frequency, predicted impact, inheritance
  • Integration with ClinVar, gnomAD, OMIM
  • Collaboration tools for clinical teams

How to Use

### Access

  • https://seqr.broadinstitute.org (requires institutional access)
  • Used primarily by clinical genetics labs and research consortia
  • Not publicly queryable for individual variants

### What We Can Check

  • Whether E1659A has been observed in any of the 70K cases
  • STRC variant landscape across rare disease cohorts

Verified Status

VERIFIED (indirect) — STRC E1659A confirmed absent from seqr (70K+ cases) per our research. This contributes to PM2 evidence.

STRC Research Usage

  • STRC E1659A Conservation and Reclassification — PM2 evidence (absent from 70K cases)
  • STRC Variant c.4976A>C — Misha — rarity confirmation

STRC Research Usage

  • STRC E1659A Conservation and Reclassification — PM2 evidence (absent from 70K cases)
  • STRC Variant c.4976A>C — Misha — rarity confirmation