ClinVar Miner

Submissions for variant NM_000492.4(CFTR):c.*133del

dbSNP: rs145697705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000303090 SCV000466533 likely benign Cystic fibrosis 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV001683426 SCV001896400 benign not provided 2018-07-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002488796 SCV002802290 benign Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation 2021-08-30 criteria provided, single submitter clinical testing

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