ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1093_1094del (p.Leu365fs)

dbSNP: rs387906365
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR-France RCV000007574 SCV001169450 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Baylor Genetics RCV003473026 SCV004213453 pathogenic Bronchiectasis with or without elevated sweat chloride 1 2023-07-26 criteria provided, single submitter clinical testing
OMIM RCV000007574 SCV000027775 pathogenic Cystic fibrosis 1992-06-01 no assertion criteria provided literature only

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