*When you have a genetic mutation (variant), the report usually includes key pieces of information:

• Variant (the change in the gene)

• Inheritance (whether it was inherited or new)

Here’s how to find each:

How do you find your variant? If you used GeneDx, Invitae, Ambry, or another lab, look under:

• “Genetic Findings”

• “Variant Details”

• “Download PDF Report”

• The PDF always has the exact variant listed.

You can copy the variant link, it may look something like: ANKRD17: NM_032217.3 c.3562C>T (p.Arg1188*)

That whole string is the variant.

What is Inheritance?

Inheritance describes where the mutation came from. Typical options: De novo means new in the child or not present in either parent. Inherited means passed down from a parent. Unknown happens if parents were not tested.

Enter information (found on the genetic test results/report*) to be added to the CAGS/ANKRD17 map. The map is a simple yet powerful visualization to show the prevalence of CAGS/ANKRD17 worldwide.

Please don't submit your data multiple times. It can take up to a couple of days for the data to be visible as we enter it manually once received. We do not collect name, email, or street address for privacy.