ClinVar Annotations

This page displays variants in your genotype file that have clinical annotations in the ClinVar database maintained by NCBI, as of February 2026. The classifications reported here reflect current scientific understanding and may change. This page is for informational purposes only. Discuss findings with a genetic counselor or healthcare provider to get a clinical interpretation.

Important - ClinVar classifications are almost useless for predicting individual health outcomes. If you are unfamiliar with ClinVar, please read this paragraph for important context: A “pathogenic” classification means the variant has been assessed by ClinVar submitters as causally contributing to a disease, not that a person has or will develop that condition. Many pathogenic variants are recessive (they require two copies to have an effect). ClinVar does not consistently provide information on whether variants are recessive or dominant. However, we have provided a zygosity column so users can tell if they are have one copy (heterozygous) or two copies (homozygous). The presence of a pathogenic variant says almost nothing about the likelihood of developing a disease, because ClinVar classifications are orthogonal to penetrance, which is the probability that a carrier actually develops an associated condition. A 2022 study published in JAMA found that mean penetrance across ClinVar pathogenic variants was only 6.9%.

Showing 25 representative variants from the demo dataset (2,472 total in a real analysis).

Variant classifications from ClinVar (NCBI). Classifications may change as new evidence emerges.