Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results.

Abstract excerpt

"Alport spectrum disorder" describes a phenotypically and genotypically multifaceted disease entity encompassing classic autosomal recessive and X-linked Alport syndrome (AS) but also more heterogenous and typically milder, yet not benign, hematuric phenotypes like autosomal dominant AS, formerly also known as thin basement membrane nephropathy (TBMN). Alport spectrum disorder is associated with disease-causing...

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