ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.325_327delinsG (p.Tyr109fs)

dbSNP: rs121908798
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000056378 SCV000071487 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000056378 SCV001169271 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV003474573 SCV004213550 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-03-05 criteria provided, single submitter clinical testing

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