variant classification

The list is intended to provide ClinVar a level of assurance about the quality of variant classification data submitted by clinical labs.

A Brazilian team has developed an open-source software tool called Mendel,MD that annotates sequencing data to identify candidate disease-causing mutations.

Researchers compared three open source annotation tools, and also looked at correspondence with public databases, identifying a number of stumbling blocks.

The recommendations were developed by a working group of the AMP Clinical Practice Committee that included representatives from ACMG, ASCO, and CAP.

ClinGen's cancer somatic working group hopes the adoption of its Minimal Variant Level Data (MVLD) framework will facilitate data exchange between institutions and help with variant interpretation.

In a new AMP working group project, labs can volunteer to compare their interpretation of challenging variants to help identify where and how the guidelines might be improved.