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%. A variant can break a critical protein yet have no effect due to genetic modifiers, environmental factors, and/or compensatory mechanisms. (For more information on this see Ciesielski et al., 2024.) Additionally, ClinVar pathogenicity classifications are unrelated to the severity of the associated condition. A "pathogenic" variant may be associated with a slight change in skin pigmentation that has no practical import on wellbeing, or it may be associated with a severe disease that results in a newborn dying shortly after birth. All of this makes ClinVar classifications almost useless for predicting individual health outcomes. Most people carry many “pathogenic” variants with no health impact. Similarly, ClinVar reporting only “benign” variants for a gene does not rule out any conditions associated with that gene, which may arise through other variants or through non-genetic factors. Where ClinVar becomes useful is when someone has an undiagnosed condition. In the case of an undiagnosed condition, trained clinicians may be able to use ClinVar information to link a patient's symptoms to a rare Mendelian disorder.

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Variant classifications from ClinVar (NCBI). ClinVar is a freely accessible, public archive of reports of the relationships among human variations and phenotypes. Classifications may change as new evidence emerges.