Article
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2021
Savatt Juliann M, Azzariti Danielle R, Ledbetter David H, Palen Emily, Rehm Heidi L, Riggs Erin Rooney, Martin Christa Lese
Abstract excerpt
PURPOSE: Variant classifications and gene-disease relationships may evolve. Professional societies have suggested patients share the responsibility to remain up-to-date on the implications genetic results have on their health, and that novel methods of recontact are needed. GenomeConnect, the ClinGen patient registry, has implemented a process to provide variant classification and gene-disease relationship...
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