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- EllisPublished 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.