Review
Open access
Aug 2026
Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working Group.
This review summarizes known causative genes, current testing methodologies, variant interpretation and reporting practices, major genomic alteration classes and recurrent hotspot variants, and highlights key knowledge gaps from clinical and laboratory perspectives.
Avinash V. Dharmadhikari, Candace T. Myers, Katherine A. King et al.
· Genetics in Medicine · 0 citations