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Variant classification changes over time in the clinical molecular diagnostic laboratory setting.

Elan HahnChloe MightonYael FisherAndrew WongVanessa Di GioacchinoNicholas WatkinsJustin MayersYvonne BombardGeorge S CharamesJordan Lerner- Ellis
Published in: Journal of medical genetics (2024)
The likelihood for reclassification of variants on reassessment is high. Most reclassified variants were downgraded to a more benign classification. Our findings highlight the importance of periodic variant reassessment to ensure timely and appropriate care for patients and their families.
Keyphrases
  • end stage renal disease
  • machine learning
  • deep learning
  • ejection fraction
  • copy number
  • healthcare
  • chronic kidney disease
  • palliative care
  • prognostic factors
  • peritoneal dialysis
  • gene expression