ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2041G>T (p.Glu681Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005033566 SCV005673350 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-04-23 criteria provided, single submitter clinical testing

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