ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.4242+1G>T (rs372227120)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000047115 SCV000245880 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Counsyl RCV000047115 SCV000220902 likely pathogenic Cystic fibrosis 2014-11-20 criteria provided, single submitter literature only
Mendelics RCV000047115 SCV000886248 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing

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