EGL classifies sequence variants following the guidelines of the ACMG Laboratory Practice Committee Working Group. These guidelines represent a basic framework for interpretation of sequence variants. Each variant listed in EmVClass is individually assessed in the context of the variant, gene, associated disease and patient phenotype.
How do I use EmVClass?
There are a couple ways, one can use the database. To access EmVClass, click this link: http://geneticslab.emory.edu/emvclass/emvclass.php.
1. Search by Gene
To search the database for variants, enter the official gene symbol and click “Search” to see every variant reported and analyzed by EGL for that gene.
2. Refine the Search
After entering the gene, a list of variants is displayed. To refine the search results for a particular variant, transcript, protein residue, or exon, enter the specific information.
3. Ask a Question About a Variant
The columns on the far right have a ? and a ✔. If you have questions about a particular variant and its assigned classification, you can contact EGL by clicking on the ?. To request a review for a particular variant, click the ✔ for the corresponding variant. Another window will open, requesting your name, contact information, and your question and/or comment. The date the variant was last reviewed is included when clicking on the symbols. Please note, not every variant will have a ✔.
The field of medical genetics is rapidly and continuously advancing, so it is important to be consistent and as up-to-date as possible with any changes. In support of that, EGL updates the EmVClass database as new data emerges to support variant reclassification. Additionally upon request, EGL will issue amended reports for each patient with a variant affected by a reclassification.
Visit the EmVClass database by clicking here.
To download the current EmVClass database, click EmVClass 2016 .
Disclaimer: The interpretation of nucleotide changes is based on EGL's current understanding of the variant at the time it was observed in a clinical case. Interpretations may not be current. Some data may not be represented. These interpretations may change over time as more information about the genes becomes available. The data presented here are not intended for clinical use outside of the context of an official EGL clinical report and should be approached with caution. Only variants identified at EGL are listed in the EmVClass. If you intend to use EGL's classification for publication purposes please contact the laboratory for permission.