Marker and allele identity
Confirms whether an identifier, coordinate, and allele representation can be mapped reliably enough for downstream lookup.
Clinical evidence layers
Every resource has a role and a boundary.
Clinical interpretation requires matching the resource to the question. A database assertion, a population frequency, a pharmacogenomic guideline, and an actionability list do not carry the same evidentiary weight.
Genome build and reference
Determines whether the observed call can be converted into a candidate variant notation without strand or build ambiguity.
ClinVar-style submissions
Shows submitted clinical significance assertions and review status. It does not by itself establish patient-specific diagnosis.
ClinGen and ACMG-style review
Separates genes and conditions where confirmed pathogenic findings may have established clinical follow-up from findings that remain informational.
Pharmacogenomic guidance
Requires the medication, phenotype translation, allele definition, and guideline context before clinical medication advice can be considered.
Population and literature evidence
Frequency, ancestry, penetrance, study design, and phenotype context determine whether an association is clinically meaningful or only hypothesis-generating.
Interpretive rule
A raw genotype row can initiate review, but clinical meaning depends on confirmatory testing, phenotype, family history, laboratory quality, and the scope of the evidence source.
Reference anchors
Clinical review should be grounded in source-specific limits: DTC/raw genotype cautions, ClinVar review status, ClinGen actionability, and curated pharmacogenomic guidance each answer different parts of the interpretation question.