ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter) (rs121909026)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000007600 SCV000071543 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
OMIM RCV000007600 SCV000027801 pathogenic Cystic fibrosis 2018-04-09 no assertion criteria provided literature only
Counsyl RCV000007600 SCV000220756 pathogenic Cystic fibrosis 2016-09-09 no assertion criteria provided clinical testing

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