ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter) (rs75115087)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007624 SCV000071541 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000007624 SCV000485206 pathogenic Cystic fibrosis 2016-02-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759034 SCV000888076 pathogenic not provided 2018-04-04 criteria provided, single submitter clinical testing
OMIM RCV000007624 SCV000027825 pathogenic Cystic fibrosis 1993-01-01 no assertion criteria provided literature only

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