EGL's Variant Classification Catalog

EmVClass News

Industry Feedback on EmVClass
“I was browsing EmVClass today to research a variant in LMNA. I had to tell you - I love that you have built this and made it so easy to use and publicly available. It's really commendable!" says Swaroop Aradhya, Ph.D, FACMG, Clinical Director at Invitae.”
EGL participation with NCBI's ClinVar initiative
EGL Genetics is pleased to announce their participation with NCBI's ClinVar initiative as a top submitting laboratory. EGL's data may be further explored here: http://www.ncbi.nlm.nih.gov/clinvar/submitters/500060/.
Free the Data: One Laboratory's Approach to Knowledge-based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
This video describes the two components of EGL Genetics's (EGL) in-house developed data management system. The first is a highly-curated variant database with a data structure designed to facilitate sharing of information about variants identified at EGL with curated databases. The second component, EmVClass, is a web-based interface that allows any user to view the inventory of variants classified at EGL.
Please enter the official gene symbol and click Search to see all the variants that have been seen and analyzed by EGL Genetics for that gene.
EGL Genetics classification definitions may be reviewed here.
You may submit a question regarding a variant by clicking the appropriate button on the returned data table.
You may prompt a review of a variant of unknown signifigance (VOUS) reviewed greater than six months ago by clicking the appropriate button on the returned data table.
If a reported variant has changed classification, you may request an amended report by clicking here.

URL Parameter Syntax

EmVClass may be automatically searched using the argument [approved_symbol] such as in the example link for the gene CFTR: https://s.genetics.emory.edu/emvclass/emvclass.php?approved_symbol=CFTR


EmVClass data for all genes and variants that have been seen and analyzed by EGL Genetics may be downloaded as a CSV plain text file which is designated to be updated quarterly. Data is subject to change and format is subject to modification.



The interpretation of nucleotide changes is based on our 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.