ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1446T>A (p.Ile482=) (rs914422460)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000733077 SCV000861096 uncertain significance not provided 2018-04-27 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192432 SCV001360546 likely benign not specified 2020-01-31 criteria provided, single submitter clinical testing

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