DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.

Abstract excerpt

Recent guidance suggested modified DNA variant pathogenicity assignments based on genome-wide allele rarity. Different a priori probabilities of pathogenicity operate where patients already have clinical diagnoses, and are found to have a very rare variant in a gene known to cause their disease, compared to predictive testing of a clinically unaffected individual. We tested new recommendations from the ClinGen...

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