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• Positive

Positive results indicate that we found pathogenic or likely pathogenic variants matching the patient’s phenotypes. The identified variants are most likely to cause the patient’s symptoms and disease.

• Inconclusive

Inconclusive results indicate that we found a variant of uncertain significance (VUS) matching the patient’s phenotypes. It is unclear whether the identified variants are causing the patient’s symptoms and disease.

• Negative

Negative results indicate we found no pathogenic and likely pathogenic variant. The patient’s current disease may not be caused by genetic disorders, there may be insufficient information on gene-disease correlation or it is not possible to discover with current technology.

For more information on the results of 3billion report, please see 3billion’s White Paper.