Information about VUSs and connections to experts may help you interpret a VUS.
ClinVar: National Institutes of Health (NIH)-funded archival database of genomic variation and its relationship to human health. This database is driven by submissions from researchers, testing labs, expert panels, and others. ClinVar then standardizes the descriptions of the variants, conditions, and terms of clinical significance.4
ClinGen: NIH-funded central resource that defines the clinical relevance of genes and variants. Rather than relying on submissions, ClinGen uses panels of experts to curate gene and variant information, with the aim of improving patient care.5 ClinGen is in the process of adding APDS variants to their database.6 Please check the site for the latest information on curated variants in PIK3CD and PIK3R1.
VUSserve: CIS-run listserv containing information about VUS in immunologically relevant genes, and connecting healthcare professionals who have identified a VUS with experts who may be able to assist with determining whether benign or pathogenic.7
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