ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3717+40A>G (rs397508595)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000576505 SCV000677605 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
Ambry Genetics RCV000623465 SCV000742529 uncertain significance Inborn genetic diseases 2017-07-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: POSITIVE: Relevant Alteration(s) Detected
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000727551 SCV000854777 likely pathogenic not provided 2017-08-31 criteria provided, single submitter clinical testing
Counsyl RCV000576505 SCV000794669 likely pathogenic Cystic fibrosis 2017-10-11 no assertion criteria provided clinical testing

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