ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter) (rs121908805)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000029475 SCV000087507 pathogenic Cystic fibrosis 2017-03-17 reviewed by expert panel research
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724154 SCV000700723 pathogenic not provided 2017-02-24 criteria provided, single submitter clinical testing
Mendelics RCV000029475 SCV000886194 pathogenic Cystic fibrosis 2018-11-05 criteria provided, single submitter clinical testing
Blueprint Genetics RCV000724154 SCV000927818 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000029475 SCV000052125 pathogenic Cystic fibrosis 2015-04-03 no assertion criteria provided clinical testing

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