ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1650del (p.Gly551fs)

dbSNP: rs397508251
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046387 SCV000245900 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000046387 SCV001169408 pathogenic Cystic fibrosis 2018-03-26 criteria provided, single submitter curation
Baylor Genetics RCV004566866 SCV005057463 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-12-20 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826618 SCV002080634 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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