The American College of Medical Genetics and Genomics (ACMG)and the Association for Molecular Pathology(AMP) published in 2015 the updated standards and guidelines for the clinical interpretation of sequence variants,based on 28 criteria. However, variability between individual interpreters may be extensive due to lack of standard algorithms that implement these guidelines. This ACMG/AMP2015 guideline is at here

Based on the ACMG/AMP 2015 guidelines, the criteria fall into two sets: pathogenic/likely pathogenic (P/LP) and benign/likely benign (B/LB).There are a total of 28 criteria: for the P/LP criterion, there are 16 criteria as very strong (PVS1), strong (PS1-4); moderate (PM1-6), or supporting (PP1-5); for the B/LB criterion, there are 12 criteria as stand-alone (BA1), strong (BS1-4), or supporting (BP1-7).

The Classify System is combing the rules from the Evidence System.The execution of our InterVar mainly consists of two major steps: 1) automatically interpretation by 28 criteria; and 2) manual adjustment by users to re-interpret the clinical significance.

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.

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