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Understanding unclear genetic test results: variants of uncertain significance (VUS) and likely pathogenic variants in ASXL-related disorders

Monday, January 13 from 1-2pm U.S. Eastern Time (find this time in your time zone): Getting a diagnosis of a rare genetic disorder for your loved one can be overwhelming, and it can be even more confusing when there is diagnostic uncertainty reported in your child's test results. Join Dr. Bianca Russell, a clinical geneticist and leading expert in ASXL-related disorders, for an explanation of what it means when your child's report says "variant of uncertain significance (VUS)" or "likely pathogenic variant." She will discuss why variants may be unclear, the evolving naming structure of ASXL-related disorders, and what your child's current diagnosis means in terms of finding where you and your family fit in the ASXL-related disorders community.

Registration is required to receive the Zoom link for this virtual webinar. This program will be recorded and made available in the ASXL Resource Library.

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January 8

Shashi-Pena Syndrome (ASXL2) GeneReviews explained with Dr. Vandana Shashi

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January 21

Dental and oral care for complex kids