ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.680T>G (p.Leu227Arg)

dbSNP: rs397508782
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047234 SCV000245992 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
CFTR-France RCV000047234 SCV001169336 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
Natera, Inc. RCV001826696 SCV002078127 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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