ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) (rs1800121)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029524 SCV000220578 likely benign Cystic fibrosis 2014-08-12 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000253655 SCV000304491 likely benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000726703 SCV000603064 likely benign not provided 2017-11-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000253655 SCV000696974 likely benign not specified 2019-08-28 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726703 SCV000702208 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing
Invitae RCV000726703 SCV001000750 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing

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