ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.3373G>T (p.Gly1125Ter)

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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 RCV005033573 SCV005666413 likely pathogenic Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2024-03-30 criteria provided, single submitter clinical testing

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