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Pathogenicity Calculator: Use case for recurrent users

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Editing already collected evidence for allele pathogenicity

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Login to calculator

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Recurrent user (who previously created one or more evidence document following New User Use case)

Alleles with pathogenic assertion

A brief summary: Gene/HGVS available upon clicking +

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Information about Gene and Allele for every entry

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Calculator Interface

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Select the row and click “Delete Tag”

Click Save Edits

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Add new tag (PVS1-Moderate)

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Click “Add Tag,” Select PVS1-Moderate, add optional Summary

Click “Update”

Click “Save Edits”

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Generate Report of allele and evidence

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Generate Report of allele and evidence

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Store evidence for a new allele

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Search new allele for which to generate evidence

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ACMG table is available when you click on “ACMG-Table” button

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Add PM2 tag

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Add PM2 tag

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Similarly add PM2 and PM3 tags

With three moderate evidence of pathogenicity the assertion is Likely Pathogenic

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Summary report is generated to download or print for user reference or submission