Trying to find information about your variant? We've compiled a list of databases - more than 50 and counting - used by researchers, clinicians, and genetic counselors around the world. These publicly available databases help you to better understand the gene in question, sometimes link to peer reviewed Journal articles, and document whether your variant has been identified and recorded. Databases are listed in alphabetical order, but start your search with the names in red, as they are the largest and more frequently used.
Have you or your child had whole exome or genome sequencing? Did it find a VUS:
variant of uncertain significance? Sometimes the VUS is benign and sometimes it's the
cause of your medical concerns. Often times there just aren't enough cases or
information to allow clinicians or geneticists to make a definitive diagnosis.
We've created an app to help you connect to other families like yours. Families with the same gene or gene variant finding who are looking for answers. All you need to do is sign up with an email, provide the gene name from your test results, and the gene variant if possible, and away you go. If there's a match, the app will ping you. Then you exchange contact info you feel comfortable sharing and connect with your match independently - off app - to protect your confidentiality and privacy.
The app is not just for those still waiting for a diagnosis. If you have been diagnosed with a rare single gene disorder, we are hoping to build a big enough user base to allow for meaningful connections of all kinds. And interested in sharing your data with the academic and research community? Or would like to be involved with future research opportunities? in so that you can participate. It's your data. You decide.
ImportantFind the gene and Variant on your test result
