ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.2065C>T (p.Gln689Ter)

dbSNP: rs1584812425
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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 RCV001009460 SCV001169538 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV004569855 SCV005057478 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-11-15 criteria provided, single submitter clinical testing

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