LYFE SCIENCES PROJECT HERA

Variant interpretation, with evidence in view.

Browse variant classifications with their recorded evidence and expert-panel criteria.

Search HGVS or explore the archive.

01 / INTERPRET A VARIANT

Start with an HGVS variant

Search existing records or submit a variant.
Transcript accession needs its version — NM_000051.3, not NM_000051 0/150
Queue

Browse variants

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Explore recorded interpretations. New results appear here when processing is complete.

Every interpretation in the database is free to read — no account needed. A free account adds 5 new interpretations a day, up to 10 a week.

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AI-assisted interpretation requires independent review. Classifications and supporting evidence may contain errors. Review the applied criteria and original sources before using a result.

Explore by gene

Every gene in the HERA database, by classification mix.

How an interpretation is assembled

The workflow records variant evidence, criterion assessments and the applicable classification framework for review.

01

Normalise

The HGVS string is validated and mapped to genomic coordinates on both GRCh37 and GRCh38. Versionless accessions are rejected here.

02

Gather evidence

Population frequency, splicing predictions, in-silico scores, ClinVar submissions, somatic databases, and the literature for the gene.

03

Apply the right spec

When a relevant ClinGen VCEP specification is available, its criterion-specific rules govern the assessment.

04

Combine

Recorded criteria are evaluated against the applicable combination rules. The report preserves the final call and supporting rationale.