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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.