ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.409del (p.Leu137fs)

dbSNP: rs397508672
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047072 SCV000245946 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000047072 SCV000845289 pathogenic Cystic fibrosis 2018-08-07 criteria provided, single submitter clinical testing
Mendelics RCV000047072 SCV000886249 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001826679 SCV002080135 pathogenic CFTR-related disorder 2017-03-17 no assertion criteria provided clinical testing

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