Create gene/disease specific classification criteria

Enter gene/disease specific parameters in the section above. Frequency thresholds are calculated from these values.

Select suitable evidence strengths from the drop down lists in the Pathogenic and Benign criteria tabs.
The display will automatically update to show which combinations of evidence are available to reach a certain class.

For deciding on the number of probands/segregation meoses, please refer to [3] in references.

The formulas used to calculate the frequency thresholds are based on [2] and [3] in references.
For additional information and to validate the frequency values please refer to this allele frequency app.

Classify variants

Click on checkboxes to select corresponding evidence points for a given variant.
The display will automatically update when a variant is classified using an available criteria combination.

View detailed criteria by clicking on the Show details button.

Saving or sharing criteria/classification data

To save your work, click on the "Save/Share criteria" button and then store the link in your system (e.g. spreadsheet, browser bookmark, file/database).
The link can be shared with other users.

This application does not store any data itself.

Examples are to show how this application works, not for clinical evaluation.

FAP

PJS

References

1) Richards, Sue, et al. "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology." Genetics in medicine 17.5 (2015): 405.

2) Whiffin, Nicola, et al. "Using high-resolution variant frequencies to empower clinical genome interpretation." Genetics in Medicine 19.10 (2017): 1151

3) Kelly, Melissa A., et al. "Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel." Genetics in Medicine 20.3 (2018): 351.

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