What does it mean when Genome Explorer says a variant is Pathogenic?

Genome Explorer is a tool for viewing raw DNA data and public annotations. When a variant is labeled Pathogenic, that label refers to how the variant itself is classified in scientific sources. It is not a medical diagnosis and it does not by itself indicate your personal risk.

Why Genome Explorer shows terms like Pathogenic and Benign

• These are standard genetics terms used in clinical and research databases such as ClinVar.

• Pathogenic means there is evidence that the variant can contribute to disease.

• Benign means the variant is not currently thought to cause disease.

• The label is tied to the variant record, not to any single person.

Important context about your own DNA

• A variant can display as Pathogenic even if you do not carry that variant. Check the Your Data or Genotype column to confirm whether it appears in your genome.

• Even if you do carry a variant labeled Pathogenic, actual health impact depends on many factors such as zygosity, other variants, clinical history, and environment. A label alone does not predict disease.

How to get interpretation that applies to you

• Use Sequencing apps that provide interpreted results for your genome. These apps connect your actual genotype to relevant clinical context and summarize next steps.

• If results raise health questions, consider discussing them with a qualified clinician or genetic counselor.

Where classifications come from

• Genome Explorer displays labels sourced from public variant databases and literature curation.

• Classifications can change over time as new evidence becomes available. Revisit your results periodically to see updates.

Frequently asked questions

Does Pathogenic mean I will develop a disease
No. It indicates that the variant can be associated with disease in some contexts. It is not a prediction for an individual.

Why do I see Pathogenic for variants I do not carry
Explorer shows the classification for the variant record. Use the Your Data or Genotype column to confirm whether that variant is present in your genome.

If I carry a Pathogenic variant, is that always harmful
Not always. Risk depends on factors such as zygosity, penetrance, gene interactions, age, and clinical context.

How do I confirm whether a Pathogenic label applies to me
Run an interpretation app designed for health insights, then review the app result for your specific genotype. For medical decisions, consult a clinician or genetic counselor.

Do these labels ever change
Yes. Variant classifications are updated as new research is published. Explorer will reflect updates when source databases change.