10. Pathogenic in IF GenesΒΆ

The Pathogenic in Incidental Finding (IF) Genes filter card is based on the ACMG recommendations for mutations in certain genes that should be reported to individuals because of their high potential medical importance. There are currently 59 ACMG IF genes that are accessed through this link, https://www.ncbi.nlm.nih.gov/clinvar/docs/acmg/, and the list can be seen by selecting the details icon and clicking on the column in your variant table titled In ACMG IF Genes?. There are two variants that applied to this filter logic, one in the SMAD4 gene and the other in DSPP.

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Figure 10-1: Show column details functionalilty.

Now that we have explored the filter logic for a trio workflow, lets now focus on using VSClinical to evaluate variants according to the ACMG guidelines.