Diagnoses of uncertain significance: kidney genetics in the 21st century

The increasing availability of sequencing has accelerated the discovery of genetic causes of kidney disease, with clear benefits for patients. However, insufficient or contradictory evidence exists for numerous variants that were previously reported to be pathogenic, calling into question some proposed gene–disease associations. Rigorous re-appraisal of evidence is needed to ensure diagnostic accuracy.

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Correspondence to Matthew G. Sampson or Detlef Bockenhauer.

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The authors declare no competing interests.

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Clinical Genome Resource: https://clinicalgenome.org

gnomAD: https://gnomad.broadinstitute.org

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Gale, D.P., Mallett, A., Patel, C. et al. Diagnoses of uncertain significance: kidney genetics in the 21st century. Nat Rev Nephrol 16, 616–618 (2020). https://doi.org/10.1038/s41581-020-0277-6

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