Annotation panels

When you open a variant, the interpreter enriches it with evidence from external reference databases. Each source appears as its own panel on the variant, giving you the population and clinical context you need to classify it without leaving Workbench. Every panel links out to the source record so you can drill in when you need to.

ClinVar

Shows what ClinVar knows about this variant or region — the clinical assertions others have submitted.

• Clinical significance — Pathogenic, Likely pathogenic, VUS (variant of uncertain significance), Likely benign, Benign, Conflicting, or Not provided, shown as a color-coded badge.

• Summary counts — how many overlapping ClinVar records fall into each significance category, so you can see the balance of evidence at a glance.

• Condition — the associated disease or phenotype.

• Review status — ClinVar's confidence, shown as a 0–4 star rating.

• Overlap — for region-based matches (e.g. structural variants), the reciprocal overlap between your variant and the ClinVar record, as a percentage.

• Link — opens the variant's ClinVar entry.

gnomAD

Shows how common the variant is in the general population — one of the most informative filters for ruling variants in or out.

• Allele frequency — the population frequency, with a rarity badge: Very rare (< 0.01%), Rare (0.01–1%), or Common (> 1%).

• Allele count/number — the raw observed counts behind the frequency.

• Consequence — the major predicted functional consequence.

• Filters — the gnomAD quality filters on the record (e.g. PASS).

• Structural variants — additionally show SV type and length, plus the reciprocal overlap with the matched gnomAD SV.

• Link — opens the variant in the gnomAD browser.

HiFi Solves

Shows the variant's frequency within the HiFi Solves reference cohort — an internal long-read population that complements gnomAD, especially in regions long-read data resolves better.

• Cohort frequency — allele count, total alleles, and allele frequency.

• Genotype breakdown — homozygous, heterozygous, and hemizygous counts.

• Sample count and the collections the variant was observed in.

• Overlap — reciprocal overlap for region-based matches.

• Variant ID — the cohort's identifier for the matched variant.

Reading frequency for interpretation. A high population frequency in gnomAD or HiFi Solves argues against pathogenicity; absence or extreme rarity keeps a variant in contention. Use these panels together — a variant rare in gnomAD but common in HiFi Solves may simply be better ascertained by long reads.