ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys) (rs79282516)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000790782 SCV000225224 pathogenic not provided 2013-09-30 criteria provided, single submitter clinical testing
Counsyl RCV000007607 SCV000678124 likely pathogenic Cystic fibrosis 2015-06-14 criteria provided, single submitter clinical testing
OMIM RCV000007607 SCV000027808 pathogenic Cystic fibrosis 1995-02-01 no assertion criteria provided literature only

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