Clinical Interpretation of genetic variants by ACMG/AMP 2015 guideline

InterVar is a bioinformatics software tool for clinical interpretation of genetic variants by the ACMG/AMP 2015 guideline. The input to InterVar is an annotated file generated from ANNOVAR, while the output of InterVar is the classification of variants into 'Benign', 'Likely benign', 'Uncertain significance', 'Likely pathogenic' and 'Pathogenic', together with detailed evidence code.



Warning: All listed results were from the automated interpretation on default parameters!
Users are advised to examine detailed evidence and use prior knowledge on ethnicity/disease to perform manual adjustments.


Database version:

This variant does not have automated ACMG/AMP 2015 interpretation. Currently, only non-synonymous variants have pre-built interpretation!




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Reference:
Quan Li and Kai Wang. InterVar: Clinical interpretation of genetic variants by ACMG-AMP 2015 guideline(The American Journal of Human Genetics 100, 1-14, February 2, 2017,http://dx.doi.org/10.1016/j.ajhg.2017.01.004)

Report Bug to Quan Li Email:leequan@gmail.com


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