ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.865A>T (p.Arg289Ter)

dbSNP: rs1057516619
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410831 SCV000485956 likely pathogenic Cystic fibrosis 2016-03-07 criteria provided, single submitter clinical testing
Baylor Genetics RCV003475952 SCV004213562 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-02-16 criteria provided, single submitter clinical testing

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