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Which CFTR variants should be tested by laboratories? New recommendations
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Which CFTR variants should be tested by laboratories? New recommendations

by American College of Medical Genetics and Genomics Flowchart depicting variants for consideration and final inclusion in the updated minimum variant set. All variant nomenclature is based on MANE Select transcript NM_000492.4. Variants for consideration were initially drawn from the previous ACMG-23 variant set and CF-causing variants available on https://cftr2.org as of April 29, 2022. The list was revised...