ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.4139del (p.Thr1380fs)

dbSNP: rs397508680
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003474599 SCV004213519 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-04-24 criteria provided, single submitter clinical testing
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577744 SCV000679135 not provided Cystic fibrosis no assertion provided literature only

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