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Potential Findings

Potential findings are SNVs/Indels or copy number variations (CNVs) discovered in a sample that meet some predefined criteria. These may be ACMG criteria, filters for gene panels with additional conditions for rare monogenic diseases, etc.

Potential findings can include SNVs/Indels or CNVs from report blocks of the type “SNVs/Indels in ACMG SF genes” (“ACMG Secondary Findings Report”), “SNVs/Indels suitable for the specified conditions” or “CNVs suitable for the specified conditions" ("Reports with mutations suitable for the specified conditions"). To have the listed blocks use the found mutations as potential findings, turn on the corresponding toggle in these blocks.

Potential findings are indicated by the icon in the report:

Change the status of a potential finding#

To change the status of a potential finding, click on in the finding's row. The following window will open:

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If the status of a potential finding that appears in multiple reports for a sample changes, its status will automatically update in all reports for that sample.

Include a potential finding to interpretation results#

To include a finding to the sample interpretation results, select the status "Included to interpretation results" and then determine the pathogenicity of the finding. If the pathogenicity class of a finding requires confirmation, confirm the pathogenicity by clicking on the corresponding option “Confirm Pathogenicity”. Then click on the button .

The icon of a potential finding included to the interpretation results will change to an icon of the finding's pathogenicity:

  • Pathogenic finding:
  • Likely pathogenic finding:
  • Finding of uncertain significance or finding with conflicting interpretations of pathogenicity:
  • Likely benign finding:
  • Benign finding:
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If a mutation that is a potential finding was included to the interpretation results on the SNV Viewer page, its status will automatically change in the potential findings report.

Exclude from the list of potential findings#

To exclude a finding from the list of potential findings, select the status "Excluded from potential findings" and click on .

The icon of a finding that has been excluded from the list of potential findings will change to .