Which CFTR variants should be tested by laboratories? New re

The American College of Medical Genetics and Genomics (ACMG) has released updated recommendations for CFTR carrier screening. Pathogenic variants in the CFTR gene can cause cystic fibrosis (CF) as well as CF-related disorders. The new updated ACMG CFTR variant list includes a set of 100 variants.

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Joshual Deignan , , American College Of Medical Genetics , American College , Medical Genetics , Genome Aggregation Database , Ashkenazi Jewish , Northern European ,