The ACMG guidelines are intended to be used in the interpretation of variants identified in patients with suspected inherited Mendelian disorders, in a clinical diagnostic laboratory setting.

What is the significance of the figure shown in the text?

The figure shown in the text is a useful tool for understanding the weighting of each line of evidence in the ACMG guidelines.

Study Notes

The ACMG developed guidelines for the interpretation of sequence variants, in order to provide a consistent and robust approach across clinical laboratories worldwide.
The guidelines are based on a weighting of different lines of evidence, and allow for critical flexibility in the assessment of variants.
The guidelines are only intended for use in the interpretation of variants identified in patients with suspected inherited Mendelian disorders, in a clinical diagnostic laboratory setting.
The guidelines are divided into 8 different categories of evidence, and each category has its own weighting.
The figure shown in the text, showing the organisation of this evidence into a framework, is a useful tool for understanding the weighting of each line of evidence.

Learn about the guidelines developed by ACMG for interpreting sequence variants in clinical diagnostic laboratories. Understand the different categories of evidence and their weightings for assessing variants in patients with suspected Mendelian disorders.