Interpret genetic variants
variant-interpretationskillsetup L1★381
majiayu000/claude-skill-registry ↗What it does
Classify genetic variants by ACMG criteria
Best for
Automated clinical variant reporting with ACMG evidence codes.
Inputs
- · Variant (HGVS/VCF)
- · Evidence codes or raw data
- · Population frequency
- · In silico scores
Outputs
- · Classification (Pathogenic/VUS/Benign)
- · Score breakdown
- · Evidence reasoning
Requires
- · Python 3.10+
Preconditions
- · Variant in canonical transcript
- · Accurate consequence
- · Population data available
Failure modes
- · Wrong isoform → PVS1 wrong
- · Outdated frequencies
- · Unreliable in silico
- · Conflicting codes
Trust signals
- · ACMG official framework
- · >95% accuracy claim
- · Rules-based engine