ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.1670del (p.Ser557fs)

dbSNP: rs397508257
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000577016 SCV000924265 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
CFTR-France RCV000577016 SCV001169411 pathogenic Cystic fibrosis 2018-01-29 criteria provided, single submitter curation
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577016 SCV000678918 not provided Cystic fibrosis no assertion provided literature only
Natera, Inc. RCV001826619 SCV002080640 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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