ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu) (rs121909047)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007662 SCV000245885 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007662 SCV000796919 pathogenic Cystic fibrosis 2018-01-04 criteria provided, single submitter clinical testing
Mendelics RCV000007662 SCV000886188 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759032 SCV000888073 likely pathogenic not provided 2018-05-23 criteria provided, single submitter clinical testing
OMIM RCV000007662 SCV000027863 pathogenic Cystic fibrosis 2003-11-21 no assertion criteria provided literature only

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