In February 2020, a group of 47 medical and scientific specialists from three continents, all with an interest in the molecular diagnostics Alport syndrome (the ‘Alport Variant Collaborative’), met in London to review the current recommendations for genetic testing for Alport syndrome and to further refine the American College of Medical Genetics/Association of Molecular Pathologists (ACMG/AMP) criteria for evaluating variants in the COL4A3–COL4A5 genes that have been published previously [8, 10]. The gene discussed is COL4A3; the disease is Alport syndrome.