ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) (rs79635528)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000007631 SCV000220897 likely pathogenic Cystic fibrosis 2014-11-20 criteria provided, single submitter literature only
CFTR-France RCV000007631 SCV001169272 pathogenic Cystic fibrosis 2015-07-03 criteria provided, single submitter curation
OMIM RCV000007631 SCV000027832 pathogenic Cystic fibrosis 1993-01-01 no assertion criteria provided literature only

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