ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) (rs145540754)

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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 RCV000174684 SCV000226032 uncertain significance not provided 2018-09-06 criteria provided, single submitter clinical testing
Counsyl RCV000674884 SCV000800292 uncertain significance Cystic fibrosis 2018-05-31 criteria provided, single submitter clinical testing
Invitae RCV000174684 SCV001010393 likely benign not provided 2019-02-08 criteria provided, single submitter clinical testing
Mendelics RCV000674884 SCV001137482 uncertain significance Cystic fibrosis 2019-05-28 criteria provided, single submitter clinical testing

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