ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) (rs143456784)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000586035 SCV000338741 uncertain significance not provided 2018-06-29 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586035 SCV000696828 uncertain significance not provided 2016-02-03 criteria provided, single submitter clinical testing
Counsyl RCV000029472 SCV000799878 uncertain significance Cystic fibrosis 2018-05-09 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029472 SCV000052122 uncertain significance Cystic fibrosis 2015-10-02 no assertion criteria provided clinical testing

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