ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.40A>T (p.Lys14Ter)

dbSNP: rs397508673
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV001009425 SCV001169377 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV003466913 SCV004215769 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2022-08-25 criteria provided, single submitter clinical testing

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