Vignette #1: Von Hippel-Landau (vHL)
A 10-year-old Black female was noted to have blood pressures above the 97th percentile at multiple pediatrician visits. Hypertension workup revealed retroperitoneal and right pelvic masses that were ultimately confirmed as multifocal/synchronous secretory paragangliomas. Germline and parental reflex testing for a hereditary syndrome reported a heterozygous VUS in the VHL gene. Familial studies indicating this variant is de novo , along with clinical and genetic findings, resulted in variant reclassification to likely pathogenic and the patient was diagnosed with vHL Disease. One year later, a new pheochromocytoma was identified and resected, which may have been delayed if not for the reclassified VUS and care per established surveillance recommendations6.